FA2H, fatty acid 2-hydroxylase

FA2H, fatty acid 2-hydroxylase

• This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]

• Gene Synonyms (fatty acid 2-hydroxylase, fatty acid alpha-hydroxylase, fatty acid hydroxylase domain containing 1, fatty acid hydroxylase domain-containing protein 1, spastic paraplegia 35 (autosomal recessive), FAAH, FAH1, FAXDC1, SCS7, SPG35,)
• NCBI Gene ID: 79152
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q7L5A8
• 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.

fatty acid 2-hydroxylase interacts with:

• armadillo repeat containing 12
  cAMP responsive element binding protein 3 like 1
  family with sequence similarity 209 member A
  G protein-coupled receptor 152
  glutathione peroxidase 8 (putative)
  membrane associated ring-CH-type finger 8
  RIC3 acetylcholine receptor chaperone
  solute carrier family 10 member 6
  synaptotagmin 2
  TLC domain containing 4
  transmembrane protein 14B
  transmembrane protein 41A

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.