PHYH
Chr 10ARphytanoyl-CoA 2-hydroxylase
Also known as: LN1, LNAP1, PAHX, PHYH1, RD
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, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PHYH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGThe Myelin Disorders Biorepository Project
RECRUITINGInherited Retinal Degenerative Disease Registry
RECRUITINGLongitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
RECRUITINGExternal Resources
Links to major genomics databases and tools