Gene Symbol | PEX14 |
Entrez Gene ID | 5195 |
Full Name | peroxisomal biogenesis factor 14 |
Synonyms | NAPP2,PBD13A,Pex14p,dJ734G22.2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3) |