PEX6

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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Description

Peroxisomal biogenesis factor 6

Tissue specificity

Tissue enhanced (pancreas)

Subcell location

Nucleoplasm, Nuclear bodies, Vesicles

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

6 (42963865 - 42979181)

Ensembl ID

ENSG00000124587  (ver. 103.38)

Orthologs

Mouse Pex6: ENSMUSG00000002763

UniProt

Q13608

neXtProt

NX_Q13608

Human splice variants
Mouse splice variants

Protein structure