Synonyms:ENTREZ:5195, HGNC:8856, MIM:601791, NAPP2, NM_004565, NP_004556, PBD13A, PEX14, Pex14p, XM_005263470, XM_011541577, XM_011541578, XM_011541579, XM_011541580, XM_024447651, XP_005263527, XP_011539879, XP_011539880, XP_011539881, XP_011539882, XP_024303419, dJ734G22.2, peroxisomal biogenesis factor 14
Omim:OMIM:601791
Id:ENSG00000142655
Hgnc:HGNC:8856
Description:peroxisomal biogenesis factor 14
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]