PHYH Products

Description

This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq]. Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

Bioinformatics

Product By Gene ID	5264
Alternate Names	LNAP1 PAHXLN1 peroxisomal PhyH PHYH1 phytanoyl-CoA 2-hydroxylase phytanoyl-CoA hydroxylase (Refsum disease) phytanoyl-CoA hydroxylase RD

Research Areas for PHYH

Find related products by research area and learn more about each of the different research areas below.

Lipid and Metabolism
Vision