PEX12

GENE INFORMATION

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Gene name

PEX12

Synonyms

Description

Peroxisomal biogenesis factor 12 (HGNC Symbol)

Entrez gene 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]

Chromosome

17

Cytoband

q12

Chromosome location (bp)

35574795 - 35578863

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000108733 (version 78.38)

Entrez gene

5193

UniProt

O00623 (UniProt - Evidence at protein level)

neXtProt

NX_O00623

Antibodypedia

PEX12 antibodies
 

PROTEIN VIEW

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PEX12-001
 
PEX12-003
 
PEX12-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PEX12-001 ENSP00000225873
ENST00000225873
O00623
Show all »
Show » Show » 359 40.8 No 2
PEX12-003 ENSP00000466280
ENST00000585380
K7ELY8
Show all »
Show » Show » 221 25.4 No 0
PEX12-201 ENSP00000482609
ENST00000613219
O00623
Show all »
Show » Show » 359 40.8 No 2