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PEX3 peroxisomal biogenesis factor 3

Gene ID: 8504, updated on 8-Jul-2021
Gene type: protein coding
Also known as: TRG18; PBD10A; PBD10B

Summary

The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Peroxisome biogenesis disorder 10A
MedGen: C3553999OMIM: 614882GeneReviews: Not available
See labs
Peroxisome biogenesis disorder 10b
MedGen: C4479254OMIM: 617370GeneReviews: Not available
See labs

Genomic context

Location:
6q24.2
Sequence:
Chromosome: 6; NC_000006.12 (143450805..143490616)
Total number of exons:
12

Links

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