PEX6

GENE INFORMATION

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Gene name

PEX6 (HGNC Symbol)

Synonyms

PAF-2, PXAAA1

Description

Peroxisomal biogenesis factor 6 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. [provided by RefSeq, Oct 2008]

Chromosome

6

Cytoband

p21.1

Chromosome location (bp)

42931608 - 42946958

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124587 (version 75.37)

Entrez gene

5190

UniProt

Q13608 (UniProt - Evidence at protein level)

neXtProt

NX_Q13608

Antibodypedia

PEX6 antibodies
 

PROTEIN VIEW

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PEX6-001
 
PEX6-201
 
 
 
 
 

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)

PEX6-001 ENSP00000303511
ENST00000304611
Q13608
Show all »
Show » Show » 980 104.1 No 0
PEX6-201 ENSP00000244546
ENST00000244546
Q8WYQ0
Show all »
Show » Show » 738 77.7 No 0