PHYH Antibody – Mouse Monoclonal

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]

PHYH: Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Defects in PHYH are a cause of Refsum disease (RD). RD is an autosomal recessive disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or third decade of life. Belongs to the PhyH family.

Protein type: EC 1.14.11.18; Oxidoreductase

Chromosomal Location of Human Ortholog: 10p13

Cellular Component: peroxisomal matrix; mitochondrion; peroxisome

Molecular Function: protein binding; electron carrier activity; L-ascorbic acid binding; metal ion binding; cofactor binding; phytanoyl-CoA dioxygenase activity

Biological Process: isoprenoid metabolic process; cellular lipid metabolic process; fatty acid alpha-oxidation

Disease: Refsum Disease, Classic