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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
peroxisome assembly protein 12
Names
peroxisome assembly protein 12
peroxin 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]. lac of sum
Disorder MIM:

601758

Disorder Html: Peroxisome biogenesis factor 12 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_000286 NP_000277 peroxisome assembly protein 12



Homo sapiens (human) PEX12 NP_000277.1
Pan troglodytes (chimpanzee) PEX12 XP_523610.2
Canis lupus familiaris (dog) PEX12 XP_548259.1
Bos taurus (cattle) PEX12 NP_001076847.1
Mus musculus (house mouse) Pex12 NP_598786.1
Rattus norvegicus (Norway rat) Pex12 NP_446373.1
Rattus norvegicus (Norway rat) LOC100909787 XP_006247088.1
Gallus gallus (chicken) PEX12 XP_415773.2
Danio rerio (zebrafish) pex12 NP_956499.1
Drosophila melanogaster (fruit fly) Pex12 NP_608546.1
Caenorhabditis elegans prx-12 NP_509908.1
Arabidopsis thaliana (thale cress) PEX12 NP_187096.2
Xenopus (Silurana) tropicalis (western clawed frog) pex12 XP_004911685.1


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

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.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu26313 NM_000286 Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $265.30
$379.00
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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 OHu26313
Clone ID Related Accession (Same CDS sequence) NM_000286
Accession Version NM_000286.2 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
Structure linear
Update Date 15-MAR-2015
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 gi:4505720. 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 :: U91521.1, BC031085.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA962343 [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..1414(+)
Misc Feature(3)1091..1153(+)
Misc Feature(4)1334..1396(+)
Misc Feature(5)1526..1639(+)
Exon (1)1..742
Gene:PEX12
Gene Synonym:
Exon (2)743..1296
Gene:PEX12
Gene Synonym:
Exon (3)1297..2683
Gene:PEX12
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000286
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

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

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders
Hum. Mutat. 30 (3), E467-E480 (2009)
Yik WY, Steinberg SJ, Moser AB, Moser HW and 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
J. Hum. Genet. 52 (7), 599-606 (2007)
Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A and Korman SH.


book

The Arabidopsis pex12 and pex13 mutants are defective in both PTS1- and PTS2-dependent protein transport to peroxisomes
Plant J. 47 (4), 604-618 (2006)
Mano S, Nakamori C, Nito K, Kondo M and Nishimura M.


book

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
Hum. Mutat. 24 (2), 130-139 (2004)
Gootjes J, Schmohl F, Mooijer PA, Dekker C, Mandel H, Topcu M, Huemer M, Von Schutz M, Marquardt T, Smeitink JA, Waterham HR and Wanders RJ.


book

Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli
J. Biol. Chem. 273 (45), 29607-29614 (1998)
Schrader M, Reuber BE, Morrell JC, Jimenez-Sanchez G, Obie C, Stroh TA, Valle D, Schroer TA and Gould SJ.


book

PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p
Mol. Cell. Biol. 18 (7), 4324-4336 (1998)
Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N and Fujiki Y.


book

PEX12 encodes an integral membrane protein of peroxisomes
Nat. Genet. 17 (3), 265-266 (1997)
Okumoto,K. and Fujiki,Y.


book

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders
Nat. Genet. 15 (4), 385-388 (1997)
Chang CC, Lee WH, Moser H, Valle D and Gould SJ.


book

Leukodystrophy Overview
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and Van der Knaap,M.S.


book

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Steinberg,S.J., Raymond,G.V., Braverman,N.E. and Moser,A.B.


 
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