Anti-PHYH monoclonal antibody Made to order

Antibody Isotype

IgG

Species Reactivity

Human

Immunogen

A synthetic peptide of human PHYH is used for rabbit immunization.

Conjugate

Alternative Names

PHYH; phytanoyl-CoA 2-hydroxylase; phytanoyl CoA hydroxylase , phytanoyl CoA hydroxylase (Refsum disease); phytanoyl-CoA dioxygenase, peroxisomal; PAHX; PHYH1; phytanoyl CoA dioxygenase; RD; Refsum disease; phytanic acid oxidase; phytanoil-CoA alpha hydro

Entrez Gene ID

UniProt ID

Antigen 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.

Pathway

Alpha-oxidation of phytanate, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of lipids and lipoproteins, organism-specific biosystem; Peroxisomal lipid metabolism, organism-specific biosystem; Peroxisome, organism-specific biosystem; Peroxisome, conserved biosystem;