PHYH Products

Description

PHYH 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]

Bioinformatics

Entrez	5264 Human
Uniprot	AAH29512 Human NM_001037537 Human NM_006214 Human NP_006205 Human NP_006205.1 Human O14832 Human
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