PHYH, phytanoyl-CoA 2-hydroxylase

PHYH, phytanoyl-CoA 2-hydroxylase

• 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]

• Gene Synonyms (phytanoyl-CoA dioxygenase, peroxisomal, phytanic acid oxidase, phytanoil-CoA alpha hydroxylase, phytanoyl-CoA 2 oxoglutarate dioxygenase, phytanoyl-CoA alpha-hydroxylase, LN1, LNAP1, PAHX, PHYH1, RD,)
• NCBI Gene ID: 5264
• Species: Homo sapiens (Human)
• UNIPROT ID#>>O14832
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

phytanoyl-CoA 2-hydroxylase interacts with:

• acyl-CoA synthetase long chain family member 6
  chromosome 6 open reading frame 226
  COP9 signalosome subunit 3
  family with sequence similarity 9 member B
  PATJ crumbs cell polarity complex component
  phytanoyl-CoA 2-hydroxylase
  phytanoyl-CoA 2-hydroxylase interacting protein
  signal regulatory protein alpha
  target of myb1 like 1 membrane trafficking protein
  tumor protein p53
  WD repeat containing, antisense to TP73

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.