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PEX13 peroxisomal biogenesis factor 13

Also known as: ZWS; NALD; PBD11A; PBD11B

Summary

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

DescriptionTests
Peroxisome biogenesis disorder 11A
MedGen: C3554000OMIM: 614883GeneReviews: Not available
See labs
Peroxisome biogenesis disorder 11B
MedGen: C3554001OMIM: 614885GeneReviews: Not available
See labs

Genomic context

Location:
2p15
Sequence:
Chromosome: 2; NC_000002.12 (61017677..61051990)
Total number of exons:
4

Links

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