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PEX13 peroxisomal biogenesis factor 13

Gene ID: 5194, updated on 8-Jul-2021
Gene type: protein coding
Also known as: ZWS; NALD; PBD11A; PBD11B


This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

Associated conditions

See all available tests in GTR for this gene

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
GeneReviews: Not available
Peroxisome biogenesis disorder 11A
MedGen: C3554000OMIM: 614883GeneReviews: Not available
See labs
Peroxisome biogenesis disorder 11B
MedGen: C3554001OMIM: 614885GeneReviews: Not available
See labs

Genomic context

Chromosome: 2; NC_000002.12 (61017720..61051990)
Total number of exons:


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