Refsum Disease

Refsum disease is also known as a rare disorder of lipid metabolism because it is inherited as a recessive trait. Such disease affects human health by causing peripheral neuropathy, lack of muscle coordination, retinitis pigmentosa, and bone and skin changes.
The gene name for Refsum disease is phytanoyl-CoA 2-hydroxylase. The Gene ID associated with this disease is 5264.
This gene encodes a peroxisomal protein, which is involved in alpha-oxidation of 3-methyl branched fatty acids. Mutations in this gene have shown to be associated with Refsum disease.