PEX7

GENE INFORMATION

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Gene name

PEX7 (HGNC Symbol)

Synonyms

PTS2R, RD

Description

Peroxisomal biogenesis factor 7 (HGNC Symbol)

Entrez gene summary

This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one 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 have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]

Chromosome

6

Cytoband

q23.3

Chromosome location (bp)

137143717 - 137235075

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000112357 (version 75.37)

Entrez gene

5191

UniProt

O00628 (UniProt - Evidence at protein level)

neXtProt

NX_O00628

Antibodypedia

PEX7 antibodies
 

PROTEIN VIEW

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PEX7-001
 
PEX7-002
 
PEX7-201
 
 
 
 
 

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)

PEX7-001 ENSP00000315680
ENST00000318471
O00628
Show all »
Show » Show » 323 35.9 No 0
PEX7-002 ENSP00000356730
ENST00000367756
Q5TDQ5
Show all »
Show » Show » 122 13.2 No 0
PEX7-201 ENSP00000441004
ENST00000541292
C0H5X6
Show all »
Show » Show » 280 30.9 No 0