FA2H wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FA2H wild-type allele is located in the vicinity of 16q23.1 and is approximately 62 kb in length. This allele, which encodes fatty acid 2-hydroxylase protein, is involved in the synthesis of 2-hydroxysphingolipids, which in turn are associated with formation of plasma membrane rafts, hair follicles, the myelin sheath and epidermal lamellar bodies. Mutation of the gene is associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia (autosomal recessive spastic paraplegia 35).

**Synonyms:** - FAAH - FAH1 - FAH1, S. cerevisiae, Homolog of Gene - FAXDC1 - FLJ25287 - Fatty Acid 2-Hydroxylase wt Allele - Fatty Acid Hydroxylase Domain Containing 1 Gene - Fatty Acid Hydroxylase Gene - SCS7 - SCS7, S. cerevisiae, Homolog of Gene - SPG35 - Spastic Paraplegia 35 (Autosomal Recessive) Gene