PEX1

Also known as PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1

Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.

Gene data

PEX1

Name: peroxisomal biogenesis factor 1
Type: protein-coding
Aliases: HMLR1, PBD1A, PBD1B, ZWS, ZWS1

This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013].

via MyGene.info

Gene · Ensembl

peroxisomal biogenesis factor 1

Symbol: PEX1
Biotype: Protein coding
Organism: Homo sapiens
Location: 7:92,487,020-92,528,663
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 27006
genomic start: 92116334
exact match: identifiers.org/ncbigene/5189
genomic end: 92528520
cytogenetic location: 7q21.2

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Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.

This gene encodes a member of the AAA protein family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome.