Gene: PHYH

Alternate names for this Gene: LN1|LNAP1|PAHX|PHYH1|RD

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10p13

Description of this Gene: phytanoyl-CoA 2-hydroxylase

Type of Gene: protein-coding

rs104894173 in PHYH gene and Refsum Disease PMID 10709665 1999 Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.

PMID 14974078 2004 Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

PMID 9326939 1997 Identification of PAHX, a Refsum disease gene.

PMID 10767344 2000 Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

PMID 9326940 1997 Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

PMID 11555634 2001 Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.

PMID 18612766 2008 Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.

rs104894178 in PHYH gene and Retinitis Pigmentosa PMID 9326939 1997 Identification of PAHX, a Refsum disease gene.

PMID 14974078 2004 Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).