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PEX16 peroxisomal biogenesis factor 16

Gene ID: 9409, updated on 12-Sep-2021
Gene type: protein coding
Also known as: PBD8A; PBD8B

Summary

The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
GeneReviews: Not available
Peroxisome biogenesis disorder 8A
MedGen: C3553959OMIM: 614876GeneReviews: Not available
See labs
Peroxisome biogenesis disorder 8B
MedGen: C3553960OMIM: 614877GeneReviews: Not available
See labs
Peroxisome biogenesis disorders, Zellweger syndrome spectrumSee labs

Genomic context

Location:
11p11.2
Sequence:
Chromosome: 11; NC_000011.10 (45909663..45917877, complement)
Total number of exons:
11

Links

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