rs2124356828
This variant is located in the PEX14 gene.
▶ClinVar annotation
Peroxisome biogenesis disorder, complementation group K
View on ClinVar →About PEX14
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]
View all PEX14 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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