PEX2

peroxisomal biogenesis factor 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

From UniProt:

Somewhat implicated in the biogenesis of peroxisomes.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Peroxisome biogenesis disorder 5A
  • Peroxisome biogenesis disorder 5B

From UniProt:

Peroxisome biogenesis disorder complementation group 5 (PBD-CG5): 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). [MIM:614866]

Peroxisome biogenesis disorder 5B (PBD5B): 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. [MIM:614867]

Peroxisome biogenesis disorder 5A (PBD5A): 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. [MIM:614866]

Cytogenetic Location: 8q21.1, which is the long (q) arm of chromosome 8 at position 21.1

Molecular Location: base pairs 76,980,258 to 77,001,044 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q21.1, which is the long (q) arm of chromosome 8 at position 21.1
  • PAF1
  • PBD5A
  • PBD5B
  • PMP3
  • PMP35
  • PXMP3
  • RNF72
  • ZWS3