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KIF1BP cDNA ORF clone, Homo sapiens(Human)

Gene Symbol KIF1BP
Entrez Gene ID 26128
Full Name KIF1 binding protein
Synonyms KBP,KIAA1279,TTC20
General protein information
Preferred Names

KIF1 binding protein

Names

KIF1-binding protein
kinesin binding protein
mutant KIF1 binding protein

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

10

10q22.1

Summary This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010].
Disorder MIM:

609367

Disorder Html: Goldberg-Shprintzen megacolon syndrome, 609460 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_015634.3 NP_056449.1 KIF1-binding protein
XM_017016067.1 XP_016871556.1 KIF1-binding protein isoform X1



Homo sapiens (human) KIAA1279 NP_056449.1
Bos taurus (cattle) KIAA1279 NP_001029731.1
Gallus gallus (chicken) KIAA1279 NP_001007945.1
Pan troglodytes (chimpanzee) KIAA1279 XP_507827.3
Drosophila melanogaster (fruit fly) CG14043 NP_608886.1
Mus musculus (house mouse) 2510003E04Rik NP_082473.2
Rattus norvegicus (Norway rat) LOC606294 NP_001026797.1
Canis lupus familiaris (dog) KIAA1279 XP_536374.3
Xenopus tropicalis (tropical clawed frog) kiaa1279 NP_001072796.1
Macaca mulatta (rhesus monkey) LOC717469 XP_002805751.1
Danio rerio (zebrafish) kbp NP_001013480.3
Anopheles gambiae (African malaria mosquito) AgaP_AGAP009536 XP_559710.2


Related articles in PubMed

Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.
Salehpour S, Hashemi-Gorji F, Soltani Z, Ghafouri-Fard S, Miryounesi M
Iranian journal of child neurology11(1)70-74(2017)

Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity.
Kevenaar JT, Bianchi S, van Spronsen M, Olieric N, Lipka J, Frias CP, Mikhaylova M, Harterink M, Keijzer N, Wulf PS, Hilbert M, Kapitein LC, de Graaff E, Ahkmanova A, Steinmetz MO, Hoogenraad CC
Current biology : CB26(7)849-61(2016 Apr)

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Valence S, Poirier K, Lebrun N, Saillour Y, Sonigo P, Bessières B, Attié-Bitach T, Benachi A, Masson C, Encha-Razavi F, Chelly J, Bahi-Buisson N
Neurogenetics14(3-4)215-24(2013 Nov)

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Drévillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, Gaillard D, Goossens M, Giurgea I
Human molecular genetics22(12)2387-99(2013 Jun)

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

Both Kif15 and KBP are required for the alignment of all the chromosomes to the metaphase plate and the assembly of stable kinetochore fibers of the correct length.
Title: Role of Kif15 and its novel mitotic partner KBP in K-fiber dynamics and chromosome alignment.

Data suggest that KBP functions as a kinesin inhibitor that modulates MT-based cargo motility and depolymerizing activity of a subset of kinesin motors. We propose that misregulation of KBP-controlled kinesin motors may represent the underlying molecular mechanism that contributes to the neuropathological defects observed in Goldberg-Shprintzen syndrome patients.
Title: Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity.

A report on fetal cases with a homozygous mutation in KBP gene in a consanguineous Pakistani family with isolated polymicrogyria.
Title: Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

KBP-cytoskeleton interactions is involved in neuronal development in Goldberg-Shprintzen syndrome.
Title: KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

The following KIF1BP gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the KIF1BP 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
OHu26093 NM_015634.3
Latest version!
Homo sapiens KIF1 binding protein (KIF1BP), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$259.50-$363.30
$519.00
OHu91295 XM_017016067.1
Latest version!
Homo sapiens KIF1 binding protein (KIF1BP), transcript variant X1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $223.30
$319.00

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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 OHu26093
Clone ID Related Accession (Same CDS sequence) NM_015634.3
Accession Version NM_015634.3 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1866bp)
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 COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-17
Organism Homo sapiens(Human)
Product KIF1-binding protein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA292451.1, BC006427.1, AL050190.1 and AI491993.1. This sequence is a reference standard in the RefSeqGene project. On Mar 18, 2010 this sequence version replaced NM_015634.2. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.228406.1, SRR1803616.174367.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

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ATGGCGAACG TTCCGTGGGC AGAGGTCTGC GAGAAATTCC AGGCGGCGCT CGCTCTGTCG 
CGGGTGGAAC TGCATAAAAA TCCGGAGAAG GAACCATACA AGTCCAAATA CAGCGCCCGG
GCGCTACTGG AAGAGGTCAA GGCGCTGCTC GGCCCTGCGC CTGAGGACGA GGATGAGCGG
CCTGAGGCCG AGGACGGCCC GGGTGCCGGT GACCACGCCC TGGGGCTGCC GGCTGAGGTG
GTGGAGCCCG AGGGGCCCGT CGCCCAGCGA GCGGTGAGGC TGGCAGTCAT CGAGTTCCAC
CTCGGGGTGA ACCACATCGA CACGGAGGAG CTGTCGGCGG GGGAGGAGCA CCTGGTGAAA
TGCCTGCGGC TGCTGCGCAG GTACCGGCTC TCGCACGACT GCATCTCTCT CTGCATCCAG
GCGCAGAATA ACCTGGGTAT CTTGTGGTCT GAAAGAGAAG AAATTGAAAC TGCACAGGCT
TACCTAGAGT CATCAGAAGC ACTATATAAT CAGTATATGA AAGAGGTTGG GAGTCCTCCT
CTTGATCCTA CTGAGCGTTT TCTTCCTGAA GAAGAGAAAC TTACTGAACA AGAGAGATCA
AAAAGATTTG AAAAGGTTTA TACTCATAAC CTATATTACC TAGCTCAAGT CTACCAGCAT
CTGGAAATGT TTGAGAAGGC TGCTCACTAT TGCCATAGTA CACTAAAACG CCAGCTTGAG
CACAATGCCT ACCATCCTAT AGAGTGGGCT ATCAATGCTG CTACCTTGTC ACAGTTTTAC
ATCAATAAGC TATGCTTTAT GGAGGCCAGG CACTGTTTAT CAGCTGCTAA TGTCATTTTT
GGTCAAACTG GAAAGATCTC AGCCACAGAA GACACTCCTG AAGCTGAAGG AGAAGTGCCA
GAGCTTTATC ATCAAAGAAA GGGGGAAATA GCAAGGTGCT GGATCAAATA CTGTTTGACT
CTCATGCAGA ATGCCCAACT CTCCATGCAG GACAACATAG GAGAGCTTGA TCTTGATAAA
CAGTCTGAAC TTAGAGCTTT AAGGAAAAAA GAACTAGATG AGGAGGAAAG CATTCGGAAA
AAAGCTGTGC AGTTTGGAAC CGGTGAACTG TGTGATGCCA TCTCTGCAGT AGAAGAGAAA
GTGAGCTACT TGAGACCTTT AGATTTTGAA GAAGCCAGAG AACTTTTCTT ATTGGGTCAG
CACTATGTCT TTGAGGCAAA AGAGTTCTTT CAGATTGATG GTTATGTCAC TGACCATATT
GAAGTTGTCC AAGACCACAG TGCTCTGTTT AAGGTGCTTG CATTCTTTGA AACTGACATG
GAGAGACGGT GCAAGATGCA TAAACGCAGA ATAGCCATGC TAGAGCCCCT AACTGTAGAC
CTGAATCCAC AGTATTATCT GTTGGTCAAC AGACAGATCC AGTTTGAAAT TGCACATGCT
TACTATGATA TGATGGATTT GAAGGTTGCC ATTGCTGACA GGCTAAGGGA TCCTGATTCA
CACATTGTAA AAAAAATAAA TAATCTTAAT AAGTCAGCAC TGAAGTACTA CCAGCTCTTC
TTAGACTCCC TGAGAGACCC AAATAAAGTA TTCCCTGAGC ATATAGGGGA AGATGTTCTT
CGCCCTGCCA TGTTAGCTAA GTTTCGAGTT GCCCGTCTCT ATGGCAAAAT CATTACTGCA
GATCCCAAGA AAGAGCTGGA AAATTTGGCA ACATCATTGG AACATTACAA ATTTATTGTT
GATTACTGTG AAAAGCATCC TGAGGCCGCC CAGGAAATAG AAGTTGAGCT AGAACTTAGT
AAAGAGATGG TTAGTCTTCT CCCAACAAAA ATGGAGAGAT TCAGAACCAA GATGGCCCTG
ACTTAA

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

RefSeq NP_056449.1
CDS113..1978
Misc Feature(1)644..646
Misc Feature(2)851..1951
Exon (1)1..538
Exon (2)539..637
Exon (3)638..717
Exon (4)718..901
Exon (5)902..986
Exon (6)987..1102
Exon (7)1103..2545
Translation

Target ORF information:

RefSeq Version NM_015634.3
Organism Homo sapiens(Human)
Definition Homo sapiens KIF1 binding protein (KIF1BP), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_015634.3

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
ATGGCGAACG TTCCGTGGGC AGAGGTCTGC GAGAAATTCC AGGCGGCGCT CGCTCTGTCG 
CGGGTGGAAC TGCATAAAAA TCCGGAGAAG GAACCATACA AGTCCAAATA CAGCGCCCGG
GCGCTACTGG AAGAGGTCAA GGCGCTGCTC GGCCCTGCGC CTGAGGACGA GGATGAGCGG
CCTGAGGCCG AGGACGGCCC GGGTGCCGGT GACCACGCCC TGGGGCTGCC GGCTGAGGTG
GTGGAGCCCG AGGGGCCCGT CGCCCAGCGA GCGGTGAGGC TGGCAGTCAT CGAGTTCCAC
CTCGGGGTGA ACCACATCGA CACGGAGGAG CTGTCGGCGG GGGAGGAGCA CCTGGTGAAA
TGCCTGCGGC TGCTGCGCAG GTACCGGCTC TCGCACGACT GCATCTCTCT CTGCATCCAG
GCGCAGAATA ACCTGGGTAT CTTGTGGTCT GAAAGAGAAG AAATTGAAAC TGCACAGGCT
TACCTAGAGT CATCAGAAGC ACTATATAAT CAGTATATGA AAGAGGTTGG GAGTCCTCCT
CTTGATCCTA CTGAGCGTTT TCTTCCTGAA GAAGAGAAAC TTACTGAACA AGAGAGATCA
AAAAGATTTG AAAAGGTTTA TACTCATAAC CTATATTACC TAGCTCAAGT CTACCAGCAT
CTGGAAATGT TTGAGAAGGC TGCTCACTAT TGCCATAGTA CACTAAAACG CCAGCTTGAG
CACAATGCCT ACCATCCTAT AGAGTGGGCT ATCAATGCTG CTACCTTGTC ACAGTTTTAC
ATCAATAAGC TATGCTTTAT GGAGGCCAGG CACTGTTTAT CAGCTGCTAA TGTCATTTTT
GGTCAAACTG GAAAGATCTC AGCCACAGAA GACACTCCTG AAGCTGAAGG AGAAGTGCCA
GAGCTTTATC ATCAAAGAAA GGGGGAAATA GCAAGGTGCT GGATCAAATA CTGTTTGACT
CTCATGCAGA ATGCCCAACT CTCCATGCAG GACAACATAG GAGAGCTTGA TCTTGATAAA
CAGTCTGAAC TTAGAGCTTT AAGGAAAAAA GAACTAGATG AGGAGGAAAG CATTCGGAAA
AAAGCTGTGC AGTTTGGAAC CGGTGAACTG TGTGATGCCA TCTCTGCAGT AGAAGAGAAA
GTGAGCTACT TGAGACCTTT AGATTTTGAA GAAGCCAGAG AACTTTTCTT ATTGGGTCAG
CACTATGTCT TTGAGGCAAA AGAGTTCTTT CAGATTGATG GTTATGTCAC TGACCATATT
GAAGTTGTCC AAGACCACAG TGCTCTGTTT AAGGTGCTTG CATTCTTTGA AACTGACATG
GAGAGACGGT GCAAGATGCA TAAACGCAGA ATAGCCATGC TAGAGCCCCT AACTGTAGAC
CTGAATCCAC AGTATTATCT GTTGGTCAAC AGACAGATCC AGTTTGAAAT TGCACATGCT
TACTATGATA TGATGGATTT GAAGGTTGCC ATTGCTGACA GGCTAAGGGA TCCTGATTCA
CACATTGTAA AAAAAATAAA TAATCTTAAT AAGTCAGCAC TGAAGTACTA CCAGCTCTTC
TTAGACTCCC TGAGAGACCC AAATAAAGTA TTCCCTGAGC ATATAGGGGA AGATGTTCTT
CGCCCTGCCA TGTTAGCTAA GTTTCGAGTT GCCCGTCTCT ATGGCAAAAT CATTACTGCA
GATCCCAAGA AAGAGCTGGA AAATTTGGCA ACATCATTGG AACATTACAA ATTTATTGTT
GATTACTGTG AAAAGCATCC TGAGGCCGCC CAGGAAATAG AAGTTGAGCT AGAACTTAGT
AAAGAGATGG TTAGTCTTCT CCCAACAAAA ATGGAGAGAT TCAGAACCAA GATGGCCCTG
ACTTAA

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

CloneID OHu91295
Clone ID Related Accession (Same CDS sequence) XM_017016067.1
Accession Version XM_017016067.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1068bp)
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 KIF1-binding protein isoform X1
Comment MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000010.11) annotated using gene prediction method: Gnomon, supported by mRNA and 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##

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ATGGAGGCCA GGCACTGTTT ATCAGCTGCT AATGTCATTT TTGGTCAAAC TGGAAAGATC 
TCAGCCACAG AAGACACTCC TGAAGCTGAA GGAGAAGTGC CAGAGCTTTA TCATCAAAGA
AAGGGGGAAA TAGCAAGGTG CTGGATCAAA TACTGTTTGA CTCTCATGCA GAATGCCCAA
CTCTCCATGC AGGACAACAT AGGAGAGCTT GATCTTGATA AACAGTCTGA ACTTAGAGCT
TTAAGGAAAA AAGAACTAGA TGAGGAGGAA AGCATTCGGA AAAAAGCTGT GCAGTTTGGA
ACCGGTGAAC TGTGTGATGC CATCTCTGCA GTAGAAGAGA AAGTGAGCTA CTTGAGACCT
TTAGATTTTG AAGAAGCCAG AGAACTTTTC TTATTGGGTC AGCACTATGT CTTTGAGGCA
AAAGAGTTCT TTCAGATTGA TGGTTATGTC ACTGACCATA TTGAAGTTGT CCAAGACCAC
AGTGCTCTGT TTAAGGTGCT TGCATTCTTT GAAACTGACA TGGAGAGACG GTGCAAGATG
CATAAACGCA GAATAGCCAT GCTAGAGCCC CTAACTGTAG ACCTGAATCC ACAGTATTAT
CTGTTGGTCA ACAGACAGAT CCAGTTTGAA ATTGCACATG CTTACTATGA TATGATGGAT
TTGAAGGTTG CCATTGCTGA CAGGCTAAGG GATCCTGATT CACACATTGT AAAAAAAATA
AATAATCTTA ATAAGTCAGC ACTGAAGTAC TACCAGCTCT TCTTAGACTC CCTGAGAGAC
CCAAATAAAG TATTCCCTGA GCATATAGGG GAAGATGTTC TTCGCCCTGC CATGTTAGCT
AAGTTTCGAG TTGCCCGTCT CTATGGCAAA ATCATTACTG CAGATCCCAA GAAAGAGCTG
GAAAATTTGG CAACATCATT GGAACATTAC AAATTTATTG TTGATTACTG TGAAAAGCAT
CCTGAGGCCG CCCAGGAAAT AGAAGTTGAG CTAGAACTTA GTAAAGAGAT GGTTAGTCTT
CTCCCAACAA AAATGGAGAG ATTCAGAACC AAGATGGCCC TGACTTAA

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

RefSeq XP_016871556.1
CDS1435..2502
Translation

Target ORF information:

RefSeq Version XM_017016067.1
Organism Homo sapiens(Human)
Definition Homo sapiens KIF1 binding protein (KIF1BP), transcript variant X1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
XM_017016067.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
ATGGAGGCCA GGCACTGTTT ATCAGCTGCT AATGTCATTT TTGGTCAAAC TGGAAAGATC 
TCAGCCACAG AAGACACTCC TGAAGCTGAA GGAGAAGTGC CAGAGCTTTA TCATCAAAGA
AAGGGGGAAA TAGCAAGGTG CTGGATCAAA TACTGTTTGA CTCTCATGCA GAATGCCCAA
CTCTCCATGC AGGACAACAT AGGAGAGCTT GATCTTGATA AACAGTCTGA ACTTAGAGCT
TTAAGGAAAA AAGAACTAGA TGAGGAGGAA AGCATTCGGA AAAAAGCTGT GCAGTTTGGA
ACCGGTGAAC TGTGTGATGC CATCTCTGCA GTAGAAGAGA AAGTGAGCTA CTTGAGACCT
TTAGATTTTG AAGAAGCCAG AGAACTTTTC TTATTGGGTC AGCACTATGT CTTTGAGGCA
AAAGAGTTCT TTCAGATTGA TGGTTATGTC ACTGACCATA TTGAAGTTGT CCAAGACCAC
AGTGCTCTGT TTAAGGTGCT TGCATTCTTT GAAACTGACA TGGAGAGACG GTGCAAGATG
CATAAACGCA GAATAGCCAT GCTAGAGCCC CTAACTGTAG ACCTGAATCC ACAGTATTAT
CTGTTGGTCA ACAGACAGAT CCAGTTTGAA ATTGCACATG CTTACTATGA TATGATGGAT
TTGAAGGTTG CCATTGCTGA CAGGCTAAGG GATCCTGATT CACACATTGT AAAAAAAATA
AATAATCTTA ATAAGTCAGC ACTGAAGTAC TACCAGCTCT TCTTAGACTC CCTGAGAGAC
CCAAATAAAG TATTCCCTGA GCATATAGGG GAAGATGTTC TTCGCCCTGC CATGTTAGCT
AAGTTTCGAG TTGCCCGTCT CTATGGCAAA ATCATTACTG CAGATCCCAA GAAAGAGCTG
GAAAATTTGG CAACATCATT GGAACATTAC AAATTTATTG TTGATTACTG TGAAAAGCAT
CCTGAGGCCG CCCAGGAAAT AGAAGTTGAG CTAGAACTTA GTAAAGAGAT GGTTAGTCTT
CTCCCAACAA AAATGGAGAG ATTCAGAACC AAGATGGCCC TGACTTAA

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

book

Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.
ian journal of child neurology11(1)70-74(2017)
Salehpour S,Hashemi-Gorji F,Soltani Z,Ghafouri-Fard S,Miryounesi M


book

Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity.
Current biology : CB26(7)849-61(2016 Apr)
Kevenaar JT,Bianchi S,van Spronsen M,Olieric N,Lipka J,Frias CP,Mikhaylova M,Harterink M,Keijzer N,Wulf PS,Hilbert M,Kapitein LC,de Graaff E,Ahkmanova A,Steinmetz MO,Hoogenraad CC


book

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Neurogenetics14(3-4)215-24(2013 Nov)
Valence S,Poirier K,Lebrun N,Saillour Y,Sonigo P,Bessières B,Attié-Bitach T,Benachi A,Masson C,Encha-Razavi F,Chelly J,Bahi-Buisson N


book

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Human molecular genetics22(12)2387-99(2013 Jun)
Drévillon L,Megarbane A,Demeer B,Matar C,Benit P,Briand-Suleau A,Bodereau V,Ghoumid J,Nasser M,Decrouy X,Doco-Fenzy M,Rustin P,Gaillard D,Goossens M,Giurgea I


 
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