InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PEX6

Summary

InnateDB Protein

IDBP-87510.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PEX6

Protein Name

peroxisomal biogenesis factor 6

Synonyms

PAF-2; PAF2; PBD4A; PDB4B; PXAAA1;

Species

Homo sapiens

Ensembl Protein

ENSP00000303511

InnateDB Gene

IDBG-87508 (PEX6)

Protein Structure

UniProt Annotation

Function

Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

Subcellular Localization

Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes.

Disease Associations

Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO:0000269PubMed:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269PubMed:10408779, ECO:0000269PubMed:8670792}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 4B (PBD4B) [MIM:614863]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269PubMed:11355018}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	11 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008022	protein C-terminus binding
GO:0016887	ATPase activity
GO:0032403	protein complex binding
GO:0042623	ATPase activity, coupled

Biological Process

GO:0006200	ATP catabolic process
GO:0006625	protein targeting to peroxisome
GO:0007031	peroxisome organization
GO:0016561	protein import into peroxisome matrix, translocation
GO:0050821	protein stabilization