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PEX10 peroxisomal biogenesis factor 10

Gene ID: 5192, updated on 8-Jul-2021
Gene type: protein coding
Also known as: NALD; PBD6A; PBD6B; RNF69

Summary

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
GeneReviews: Not available
Peroxisome biogenesis disorder 6A
MedGen: C3553947OMIM: 614870GeneReviews: Not available
See labs
Peroxisome biogenesis disorder 6B
MedGen: C3553948OMIM: 614871GeneReviews: Not available
See labs

Genomic context

Location:
1p36.32
Sequence:
Chromosome: 1; NC_000001.11 (2403974..2413827, complement)
Total number of exons:
8

Links

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