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PEX12 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol PEX12
Entrez Gene ID 5193
Full Name peroxisomal biogenesis factor 12
Synonyms PAF-3,PBD3A
General protein information
Preferred Names

peroxisomal biogenesis factor 12

Names

peroxisome assembly protein 12
peroxin 12
peroxisome assembly factor 3

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

17

17q12

Summary This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008].
Disorder MIM:

601758

Disorder Html: Peroxisome biogenesis factor 12 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_000286.2 NP_000277.1 peroxisome assembly protein 12



Bos taurus (cattle) PEX12 NP_001076847.1
Schizosaccharomyces pombe (fission yeast) SPAPB17E12.03 NP_001018219.2
Pan troglodytes (chimpanzee) PEX12 XP_523610.2
Danio rerio (zebrafish) pex12 NP_956499.1
Drosophila melanogaster (fruit fly) Pex12 NP_608546.1
Mus musculus (house mouse) Pex12 NP_598786.1
Rattus norvegicus (Norway rat) Pex12 NP_446373.1
Magnaporthe oryzae (rice blast fungus) MGG_01771 XP_003714773.1
Neurospora crassa NCU05245 XP_962009.1
Oryza sativa (rice) Os10g0467200 NP_001064809.1
Xenopus tropicalis (tropical clawed frog) pex12 XP_004911685.1
Canis lupus familiaris (dog) PEX12 XP_548259.1
Anopheles gambiae (African malaria mosquito) AgaP_AGAP010497 XP_001237561.2
Arabidopsis thaliana (thale cress) PEX12 NP_187096.2
Homo sapiens (human) PEX12 NP_000277.1
Rattus norvegicus (Norway rat) LOC100909787 XP_006247088.1
Gallus gallus (chicken) PEX12 XP_415773.2
Caenorhabditis elegans (roundworm) prx-12 NP_509908.1


Related articles in PubMed

PEX14 is required for microtubule-based peroxisome motility in human cells.
Bharti P, Schliebs W, Schievelbusch T, Neuhaus A, David C, Kock K, Herrmann C, Meyer HE, Wiese S, Warscheid B, Theiss C, Erdmann R
Journal of cell science124(Pt 10)1759-68(2011 May)

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG
Human mutation30(3)E467-80(2009 Mar)

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A, Korman SH
Journal of human genetics52(7)599-606(2007)

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

the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX12 gene.
Title: Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Highly probable candidate gene for direct sequencing in the context of a peroxisomal biogenesis disorder with a mild clinical phenotype, mosaicism and minimally abnormal peroxisomal parameters in fibroblasts.
Title: A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.

A single missense mutation was found in PEX12 in eight neonatal adrenoleukodystrophy, and infantile Refsum disease patients With Peroxisomal Mosaicism.
Title: Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.

examination of role in PEX5 binding of PTS1
Title: PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12.

The following PEX12 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PEX12 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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OHu26313 NM_000286.2
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Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $265.30
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** 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 OHu26313
Clone ID Related Accession (Same CDS sequence) NM_000286.2
Accession Version NM_000286.2 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1080bp)
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 2017-05-04
Organism Homo sapiens(Human)
Product peroxisome assembly protein 12
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA298874.1, U91521.1, BC031085.1 and AI341587.1. This sequence is a reference standard in the RefSeqGene project. On Aug 14, 2008 this sequence version replaced NM_000286.1. 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 :: SRR1660805.53189.1, SRR1803613.182058.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093 [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
961
1021
ATGGCTGAGC ACGGGGCTCA CTTCACAGCT GCTTCTGTGG CCGATGACCA GCCATCCATC 
TTTGAGGTGG TAGCACAGGA CAGTTTAATG ACAGCAGTGA GACCCGCTCT TCAGCATGTG
GTCAAGGTTC TTGCAGAATC AAATCCCACC CACTATGGCT TCTTGTGGAG GTGGTTTGAT
GAAATCTTTA CTCTGCTAGA TCTTCTGCTC CAGCAACATT ATCTGTCTAG AACCAGTGCC
TCATTTTCTG AAAACTTTTA CGGCTTAAAG AGAATTGTAA TGGGGGACAC TCACAAGTCT
CAGAGATTGG CTAGTGCTGG TCTCCCAAAG CAGCAGCTTT GGAAATCTAT TATGTTCCTG
GTTCTTCTTC CCTATCTGAA AGTGAAGCTG GAGAAGCTGG TTTCTAGCCT GAGAGAAGAG
GATGAATATT CTATTCATCC CCCTTCTTCC CGCTGGAAAC GATTTTACAG AGCTTTCCTG
GCAGCCTACC CATTTGTGAA CATGGCCTGG GAAGGATGGT TTCTTGTACA ACAACTTCGA
TACATCCTAG GAAAAGCTCA GCATCACTCA CCACTGCTGA GGCTGGCTGG AGTTCAGCTA
GGTCGACTGA CAGTTCAGGA TATACAAGCT CTGGAGCACA AACCAGCTAA GGCCAGCATG
ATGCAGCAAC CAGCCAGGAG TGTTAGTGAG AAGATAAACT CAGCTCTGAA GAAAGCTGTT
GGGGGTGTTG CCTTATCCCT GTCTACTGGC CTTTCTGTGG GTGTATTCTT CTTGCAGTTC
CTTGACTGGT GGTACTCATC TGAAAATCAA GAAACCATCA AGTCATTGAC TGCCCTGCCT
ACTCCACCAC CACCTGTACA CCTAGACTAT AACTCTGATT CTCCCCTCTT ACCCAAAATG
AAGACTGTGT GCCCACTGTG TCGTAAAACC CGGGTGAATG ATACTGTTCT TGCCACCTCT
GGCTATGTGT TTTGTTACCG CTGTGTGTTT CATTATGTGA GGAGTCACCA AGCTTGTCCC
ATCACAGGTT ATCCAACAGA AGTACAACAT CTGATTAAAC TCTACTCCCC TGAGAACTGA

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

RefSeq NP_000277.1
CDS617..1696
Misc Feature(1)341..343
Misc Feature(2)692..1417
Misc Feature(3)1091..1153
Misc Feature(4)1334..1396
Misc Feature(5)1526..1639
Exon (1)1..742
Exon (2)743..1296
Exon (3)1297..2683
Translation

Target ORF information:

RefSeq Version NM_000286.2
Organism Homo sapiens(Human)
Definition Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000286.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
ATGGCTGAGC ACGGGGCTCA CTTCACAGCT GCTTCTGTGG CCGATGACCA GCCATCCATC 
TTTGAGGTGG TAGCACAGGA CAGTTTAATG ACAGCAGTGA GACCCGCTCT TCAGCATGTG
GTCAAGGTTC TTGCAGAATC AAATCCCACC CACTATGGCT TCTTGTGGAG GTGGTTTGAT
GAAATCTTTA CTCTGCTAGA TCTTCTGCTC CAGCAACATT ATCTGTCTAG AACCAGTGCC
TCATTTTCTG AAAACTTTTA CGGCTTAAAG AGAATTGTAA TGGGGGACAC TCACAAGTCT
CAGAGATTGG CTAGTGCTGG TCTCCCAAAG CAGCAGCTTT GGAAATCTAT TATGTTCCTG
GTTCTTCTTC CCTATCTGAA AGTGAAGCTG GAGAAGCTGG TTTCTAGCCT GAGAGAAGAG
GATGAATATT CTATTCATCC CCCTTCTTCC CGCTGGAAAC GATTTTACAG AGCTTTCCTG
GCAGCCTACC CATTTGTGAA CATGGCCTGG GAAGGATGGT TTCTTGTACA ACAACTTCGA
TACATCCTAG GAAAAGCTCA GCATCACTCA CCACTGCTGA GGCTGGCTGG AGTTCAGCTA
GGTCGACTGA CAGTTCAGGA TATACAAGCT CTGGAGCACA AACCAGCTAA GGCCAGCATG
ATGCAGCAAC CAGCCAGGAG TGTTAGTGAG AAGATAAACT CAGCTCTGAA GAAAGCTGTT
GGGGGTGTTG CCTTATCCCT GTCTACTGGC CTTTCTGTGG GTGTATTCTT CTTGCAGTTC
CTTGACTGGT GGTACTCATC TGAAAATCAA GAAACCATCA AGTCATTGAC TGCCCTGCCT
ACTCCACCAC CACCTGTACA CCTAGACTAT AACTCTGATT CTCCCCTCTT ACCCAAAATG
AAGACTGTGT GCCCACTGTG TCGTAAAACC CGGGTGAATG ATACTGTTCT TGCCACCTCT
GGCTATGTGT TTTGTTACCG CTGTGTGTTT CATTATGTGA GGAGTCACCA AGCTTGTCCC
ATCACAGGTT ATCCAACAGA AGTACAACAT CTGATTAAAC TCTACTCCCC TGAGAACTGA

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

book

PEX14 is required for microtubule-based peroxisome motility in human cells.
Journal of cell science124(Pt 10)1759-68(2011 May)
Bharti P,Schliebs W,Schievelbusch T,Neuhaus A,David C,Kock K,Herrmann C,Meyer HE,Wiese S,Warscheid B,Theiss C,Erdmann R


book

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Human mutation30(3)E467-80(2009 Mar)
Yik WY,Steinberg SJ,Moser AB,Moser HW,Hacia JG


book

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Journal of human genetics52(7)599-606(2007)
Zeharia A,Ebberink MS,Wanders RJ,Waterham HR,Gutman A,Nissenkorn A,Korman SH


 
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