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PEX14 peroxisomal biogenesis factor 14

Also known as: NAPP2; PBD13A; Pex14p; dJ734G22.2

Summary

This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]

Associated conditions

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DescriptionTests
Peroxisome biogenesis disorder 13A
MedGen: CN159243OMIM: 614887GeneReviews: Not available
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Genomic context

Location:
1p36.22
Sequence:
Chromosome: 1; NC_000001.11 (10474946..10630758)
Total number of exons:
13

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