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PEX26 peroxisomal biogenesis factor 26

Gene ID: 55670, updated on 8-Jul-2021
Gene type: protein coding
Also known as: PBD7A; PBD7B; PEX26M1T; Pex26pM1T

Summary

This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Peroxisome biogenesis disorder 7A
MedGen: C3888385OMIM: 614872GeneReviews: Not available
See labs
Peroxisome biogenesis disorder 7B
MedGen: C3553951OMIM: 614873GeneReviews: Not available
See labs

Genomic context

Location:
22q11.21
Sequence:
Chromosome: 22; NC_000022.11 (18077990..18105396)
Total number of exons:
5

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