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GNPTG cDNA ORF clone, Homo sapiens(Human)

Gene Symbol GNPTG
Entrez Gene ID 84572
Full Name N-acetylglucosamine-1-phosphate transferase gamma subunit
Synonyms C16orf27,GNPTAG,LP2537,RJD9
General protein information
Preferred Names

N-acetylglucosamine-1-phosphate transferase gamma subunit

Names

N-acetylglucosamine-1-phosphotransferase subunit gamma
UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
glcNAc-1-phosphotransferase subunit gamma

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

16

16p13.3

Summary This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010].
Disorder MIM:

607838

Disorder Html: Mucolipidosis III gamma, 252605 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_032520.4 NP_115909.1 N-acetylglucosamine-1-phosphotransferase subunit gamma precursor
XM_017023783.1 XP_016879272.1 N-acetylglucosamine-1-phosphotransferase subunit gamma isoform X2
XM_017023782.1 XP_016879271.1 N-acetylglucosamine-1-phosphotransferase subunit gamma isoform X1



Canis lupus familiaris (dog) GNPTG XP_003639173.2
Mus musculus (house mouse) Gnptg NP_766117.2
Pan troglodytes (chimpanzee) GNPTG XP_001159025.1
Bos taurus (cattle) GNPTG NP_001017428.1
Gallus gallus (chicken) GNPTG NP_001264495.1
Danio rerio (zebrafish) gnptg NP_001002057.2
Xenopus tropicalis (tropical clawed frog) gnptg NP_001011369.1
Homo sapiens (human) GNPTG NP_115909.1
Rattus norvegicus (Norway rat) Gnptg NP_001093963.1


Related articles in PubMed

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
Velho RV, Ludwig NF, Alegra T, Sperb-Ludwig F, Guarany NR, Matte U, Schwartz IV
Journal of human genetics61(6)555-60(2016 Jun)

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
Raza MH, Domingues CE, Webster R, Sainz E, Paris E, Rahn R, Gutierrez J, Chow HM, Mundorff J, Kang CS, Riaz N, Basra MA, Khan S, Riazuddin S, Moretti-Ferreira D, Braun A, Drayna D
European journal of human genetics : EJHG24(4)529-34(2016 Apr)

Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.
De Pace R, Velho RV, Encarnação M, Marschner K, Braulke T, Pohl S
Human molecular genetics24(23)6826-35(2015 Dec)

Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
Chen H, Xu J, Zhou Y, Gao Y, Wang G, Xia J, Huen MS, Siok WT, Jiang Y, Tan LH, Sun Y
BMC genetics167(2015 Feb)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

we suggest that GNPTG analysis must be performed on gDNA because of the instability of mRNA containing premature stop codons and the occurrence of mRNA editing. The mRNA editing could play an important role in modulating the association between mutant genotype and clinical phenotype.
Title: Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

persistent stuttering is associated with mutations in GNPTG that are generally not found in mucolipidosis.
Title: Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.

GlcNAc-1-phosphotransferase gamma-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit, which is independent on cysteine 70 identified to be responsible for alpha-subunit homodimerization.
Title: Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.

SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons.
Title: Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.

findings expand the mutation spectrum of the GNPTG gene in Mucolipidosis type III gamma (three novel mutations were identified)
Title: Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.

The following GNPTG gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the GNPTG cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu86320 XM_017023782.1
Latest version!
Homo sapiens N-acetylglucosamine-1-phosphate transferase gamma subunit (GNPTG), transcript variant X1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 9-11 $139.30
$199.00
OHu86321 XM_017023783.1
Latest version!
Homo sapiens N-acetylglucosamine-1-phosphate transferase gamma subunit (GNPTG), transcript variant X2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 9-11 $69.30
$99.00
OHu20222 NM_032520.4
Latest version!
Homo sapiens N-acetylglucosamine-1-phosphate transferase gamma subunit (GNPTG), mRNA. pcDNA3.1+/C-(K)DYK or customized vector TBD $216.30
$309.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu86320
Clone ID Related Accession (Same CDS sequence) XM_017023782.1
Accession Version XM_017023782.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 966bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-06-06
Organism Homo sapiens(Human)
Product N-acetylglucosamine-1-phosphotransferase subunit gamma isoform X1
Comment MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000016.10) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 108 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.0 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
ATGGCGGCGG GGCTGGCGCG GCTCCTGTTG CTCCTCGGGC TCTCGGCCGG CGGGCCCGCG 
CCGGCAGGTG CAGCGAAGAT GAAGGTGGTG GAGGAGCCCA ACGCGTTTGG GGTGAACAAC
CCGTTCTTGC CTCAGGCCAG TCGCCTCCAG GCCAAGAGGG ATCCTTCACC CGTGTCTGAC
AGGTTCTGTG CTTGGACCCT GGGGATCAGT GTGAGGTCTC TTCCAGGACC CGTGCATCTC
TTCCGACTCT CGGGCAAGTG CTTCAGCCTG GTGGAGTCCA CGTACAAGTA TGAGTTCTGC
CCGTTCCACA ACGTGACCCA GCACGAGCAG ACCTTCCGCT GGAACGCCTA CAGTGGGATC
CTCGGCATCT GGCACGAGTG GGAGATCGCC AACAACACCT TCACGGGCAT GTGGATGAGG
GACGGTGACG CCTGCCGTTC CCGGAGCCGG CAGAGCAAGG TGGAGCTGGC GTGTGGAAAA
AGCAACCGGC TGGCCCATGT GTCCGAGCCG AGCACCTGCG TCTACGCGCT GACGTTCGAG
ACCCCCCTCG TCTGCCACCC CCACGCCTTG CTAGTGTACC CAACCCTGCC AGAGGCCCTG
CAGCGGCAGT GGGACCAGGT AGAGCAGGAC CTGGCCGATG AGCTGATCAC CCCCCAGGGC
CATGAGAAGT TGCTGAGGAC ACTTTTTGAG GATGCTGGCT ACTTAAAGAC CCCAGAAGAA
AATGAACCCA CCCAGCTGGA GGGAGGTCCT GACAGCTTGG GGTTTGAGAC CCTGGAAAAC
TGCAGGAAGG CTCATAAAGA ACTCTCAAAG GAGATCAAAA GGCTGAAAGG TTTGCTCACC
CAGCACGGCA TCCCCTACAC GAGGCCCACA GAAACTTCCA ACTTGGAGCA CTTGGGCCAC
GAGACGCCCA GAGCCAAGTC TCCAGAGCAG CTGCGGGGTG ACCCAGGACT GCGTGGGAGT
TTGTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq XP_016879271.1
CDS36..1001
Translation

Target ORF information:

RefSeq Version XM_017023782.1
Organism Homo sapiens(Human)
Definition Homo sapiens N-acetylglucosamine-1-phosphate transferase gamma subunit (GNPTG), transcript variant X1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
XM_017023782.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
ATGGCGGCGG GGCTGGCGCG GCTCCTGTTG CTCCTCGGGC TCTCGGCCGG CGGGCCCGCG 
CCGGCAGGTG CAGCGAAGAT GAAGGTGGTG GAGGAGCCCA ACGCGTTTGG GGTGAACAAC
CCGTTCTTGC CTCAGGCCAG TCGCCTCCAG GCCAAGAGGG ATCCTTCACC CGTGTCTGAC
AGGTTCTGTG CTTGGACCCT GGGGATCAGT GTGAGGTCTC TTCCAGGACC CGTGCATCTC
TTCCGACTCT CGGGCAAGTG CTTCAGCCTG GTGGAGTCCA CGTACAAGTA TGAGTTCTGC
CCGTTCCACA ACGTGACCCA GCACGAGCAG ACCTTCCGCT GGAACGCCTA CAGTGGGATC
CTCGGCATCT GGCACGAGTG GGAGATCGCC AACAACACCT TCACGGGCAT GTGGATGAGG
GACGGTGACG CCTGCCGTTC CCGGAGCCGG CAGAGCAAGG TGGAGCTGGC GTGTGGAAAA
AGCAACCGGC TGGCCCATGT GTCCGAGCCG AGCACCTGCG TCTACGCGCT GACGTTCGAG
ACCCCCCTCG TCTGCCACCC CCACGCCTTG CTAGTGTACC CAACCCTGCC AGAGGCCCTG
CAGCGGCAGT GGGACCAGGT AGAGCAGGAC CTGGCCGATG AGCTGATCAC CCCCCAGGGC
CATGAGAAGT TGCTGAGGAC ACTTTTTGAG GATGCTGGCT ACTTAAAGAC CCCAGAAGAA
AATGAACCCA CCCAGCTGGA GGGAGGTCCT GACAGCTTGG GGTTTGAGAC CCTGGAAAAC
TGCAGGAAGG CTCATAAAGA ACTCTCAAAG GAGATCAAAA GGCTGAAAGG TTTGCTCACC
CAGCACGGCA TCCCCTACAC GAGGCCCACA GAAACTTCCA ACTTGGAGCA CTTGGGCCAC
GAGACGCCCA GAGCCAAGTC TCCAGAGCAG CTGCGGGGTG ACCCAGGACT GCGTGGGAGT
TTGTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu86321
Clone ID Related Accession (Same CDS sequence) XM_017023783.1
Accession Version XM_017023783.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 558bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-06-06
Organism Homo sapiens(Human)
Product N-acetylglucosamine-1-phosphotransferase subunit gamma isoform X2
Comment MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000016.10) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 108 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.0 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

1
61
121
181
241
301
361
421
481
541
ATGTGGATGA GGGACGGTGA CGCCTGCCGT TCCCGGAGCC GGCAGAGCAA GGTGGAGCTG 
GCGTGTGGAA AAAGCAACCG GCTGGCCCAT GTGTCCGAGC CGAGCACCTG CGTCTACGCG
CTGACGTTCG AGACCCCCCT CGTCTGCCAC CCCCACGCCT TGCTAGTGTA CCCAACCCTG
CCAGAGGCCC TGCAGCGGCA GTGGGACCAG GTAGAGCAGG ACCTGGCCGA TGAGCTGATC
ACCCCCCAGG GCCATGAGAA GTTGCTGAGG ACACTTTTTG AGGATGCTGG CTACTTAAAG
ACCCCAGAAG AAAATGAACC CACCCAGCTG GAGGGAGGTC CTGACAGCTT GGGGTTTGAG
ACCCTGGAAA ACTGCAGGAA GGCTCATAAA GAACTCTCAA AGGAGATCAA AAGGCTGAAA
GGTTTGCTCA CCCAGCACGG CATCCCCTAC ACGAGGCCCA CAGAAACTTC CAACTTGGAG
CACTTGGGCC ACGAGACGCC CAGAGCCAAG TCTCCAGAGC AGCTGCGGGG TGACCCAGGA
CTGCGTGGGA GTTTGTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq XP_016879272.1
CDS316..873
Translation

Target ORF information:

RefSeq Version XM_017023783.1
Organism Homo sapiens(Human)
Definition Homo sapiens N-acetylglucosamine-1-phosphate transferase gamma subunit (GNPTG), transcript variant X2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
XM_017023783.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
ATGTGGATGA GGGACGGTGA CGCCTGCCGT TCCCGGAGCC GGCAGAGCAA GGTGGAGCTG 
GCGTGTGGAA AAAGCAACCG GCTGGCCCAT GTGTCCGAGC CGAGCACCTG CGTCTACGCG
CTGACGTTCG AGACCCCCCT CGTCTGCCAC CCCCACGCCT TGCTAGTGTA CCCAACCCTG
CCAGAGGCCC TGCAGCGGCA GTGGGACCAG GTAGAGCAGG ACCTGGCCGA TGAGCTGATC
ACCCCCCAGG GCCATGAGAA GTTGCTGAGG ACACTTTTTG AGGATGCTGG CTACTTAAAG
ACCCCAGAAG AAAATGAACC CACCCAGCTG GAGGGAGGTC CTGACAGCTT GGGGTTTGAG
ACCCTGGAAA ACTGCAGGAA GGCTCATAAA GAACTCTCAA AGGAGATCAA AAGGCTGAAA
GGTTTGCTCA CCCAGCACGG CATCCCCTAC ACGAGGCCCA CAGAAACTTC CAACTTGGAG
CACTTGGGCC ACGAGACGCC CAGAGCCAAG TCTCCAGAGC AGCTGCGGGG TGACCCAGGA
CTGCGTGGGA GTTTGTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu20222
Clone ID Related Accession (Same CDS sequence) NM_032520.4
Accession Version NM_032520.4 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 918bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-05-08
Organism Homo sapiens(Human)
Product N-acetylglucosamine-1-phosphotransferase subunit gamma precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DT219524.1, BC014592.1, AK312067.1 and AY203933.1. This sequence is a reference standard in the RefSeqGene project. On Feb 12, 2010 this sequence version replaced NM_032520.3. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.113610.1, BC014592.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGCGGCGG GGCTGGCGCG GCTCCTGTTG CTCCTCGGGC TCTCGGCCGG CGGGCCCGCG 
CCGGCAGGTG CAGCGAAGAT GAAGGTGGTG GAGGAGCCCA ACGCGTTTGG GGTGAACAAC
CCGTTCTTGC CTCAGGCCAG TCGCCTCCAG GCCAAGAGGG ATCCTTCACC CGTGTCTGGA
CCCGTGCATC TCTTCCGACT CTCGGGCAAG TGCTTCAGCC TGGTGGAGTC CACGTACAAG
TATGAGTTCT GCCCGTTCCA CAACGTGACC CAGCACGAGC AGACCTTCCG CTGGAACGCC
TACAGTGGGA TCCTCGGCAT CTGGCACGAG TGGGAGATCG CCAACAACAC CTTCACGGGC
ATGTGGATGA GGGACGGTGA CGCCTGCCGT TCCCGGAGCC GGCAGAGCAA GGTGGAGCTG
GCGTGTGGAA AAAGCAACCG GCTGGCCCAT GTGTCCGAGC CGAGCACCTG CGTCTACGCG
CTGACGTTCG AGACCCCCCT CGTCTGCCAC CCCCACGCCT TGCTAGTGTA CCCAACCCTG
CCAGAGGCCC TGCAGCGGCA GTGGGACCAG GTAGAGCAGG ACCTGGCCGA TGAGCTGATC
ACCCCCCAGG GCCATGAGAA GTTGCTGAGG ACACTTTTTG AGGATGCTGG CTACTTAAAG
ACCCCAGAAG AAAATGAACC CACCCAGCTG GAGGGAGGTC CTGACAGCTT GGGGTTTGAG
ACCCTGGAAA ACTGCAGGAA GGCTCATAAA GAACTCTCAA AGGAGATCAA AAGGCTGAAA
GGTTTGCTCA CCCAGCACGG CATCCCCTAC ACGAGGCCCA CAGAAACTTC CAACTTGGAG
CACTTGGGCC ACGAGACGCC CAGAGCCAAG TCTCCAGAGC AGCTGCGGGG TGACCCAGGA
CTGCGTGGGA GTTTGTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_115909.1
CDS68..985
Misc Feature(1)41..43
Misc Feature(2)272..454
Exon (1)1..119
Exon (2)120..177
Exon (3)178..245
Exon (4)246..300
Exon (5)301..384
Exon (6)385..478
Exon (7)479..593
Exon (8)594..676
Exon (9)677..808
Exon (10)809..890
Exon (11)891..1245
Translation

Target ORF information:

RefSeq Version NM_032520.4
Organism Homo sapiens(Human)
Definition Homo sapiens N-acetylglucosamine-1-phosphate transferase gamma subunit (GNPTG), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_032520.4

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGCGGCGG GGCTGGCGCG GCTCCTGTTG CTCCTCGGGC TCTCGGCCGG CGGGCCCGCG 
CCGGCAGGTG CAGCGAAGAT GAAGGTGGTG GAGGAGCCCA ACGCGTTTGG GGTGAACAAC
CCGTTCTTGC CTCAGGCCAG TCGCCTCCAG GCCAAGAGGG ATCCTTCACC CGTGTCTGGA
CCCGTGCATC TCTTCCGACT CTCGGGCAAG TGCTTCAGCC TGGTGGAGTC CACGTACAAG
TATGAGTTCT GCCCGTTCCA CAACGTGACC CAGCACGAGC AGACCTTCCG CTGGAACGCC
TACAGTGGGA TCCTCGGCAT CTGGCACGAG TGGGAGATCG CCAACAACAC CTTCACGGGC
ATGTGGATGA GGGACGGTGA CGCCTGCCGT TCCCGGAGCC GGCAGAGCAA GGTGGAGCTG
GCGTGTGGAA AAAGCAACCG GCTGGCCCAT GTGTCCGAGC CGAGCACCTG CGTCTACGCG
CTGACGTTCG AGACCCCCCT CGTCTGCCAC CCCCACGCCT TGCTAGTGTA CCCAACCCTG
CCAGAGGCCC TGCAGCGGCA GTGGGACCAG GTAGAGCAGG ACCTGGCCGA TGAGCTGATC
ACCCCCCAGG GCCATGAGAA GTTGCTGAGG ACACTTTTTG AGGATGCTGG CTACTTAAAG
ACCCCAGAAG AAAATGAACC CACCCAGCTG GAGGGAGGTC CTGACAGCTT GGGGTTTGAG
ACCCTGGAAA ACTGCAGGAA GGCTCATAAA GAACTCTCAA AGGAGATCAA AAGGCTGAAA
GGTTTGCTCA CCCAGCACGG CATCCCCTAC ACGAGGCCCA CAGAAACTTC CAACTTGGAG
CACTTGGGCC ACGAGACGCC CAGAGCCAAG TCTCCAGAGC AGCTGCGGGG TGACCCAGGA
CTGCGTGGGA GTTTGTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
Journal of human genetics61(6)555-60(2016 Jun)
Velho RV,Ludwig NF,Alegra T,Sperb-Ludwig F,Guarany NR,Matte U,Schwartz IV


book

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
European journal of human genetics : EJHG24(4)529-34(2016 Apr)
Raza MH,Domingues CE,Webster R,Sainz E,Paris E,Rahn R,Gutierrez J,Chow HM,Mundorff J,Kang CS,Riaz N,Basra MA,Khan S,Riazuddin S,Moretti-Ferreira D,Braun A,Drayna D


book

Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.
Human molecular genetics24(23)6826-35(2015 Dec)
De Pace R,Velho RV,Encarnação M,Marschner K,Braulke T,Pohl S


book

Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
BMC genetics167(2015 Feb)
Chen H,Xu J,Zhou Y,Gao Y,Wang G,Xia J,Huen MS,Siok WT,Jiang Y,Tan LH,Sun Y


 
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