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- Bf3f03363edf9918c3f2a1fecfa830328 NCIT_P378 "NCI" @default.
- Bf3f03363edf9918c3f2a1fecfa830328 type Axiom @default.
- Bf3f03363edf9918c3f2a1fecfa830328 annotatedProperty IAO_0000115 @default.
- Bf3f03363edf9918c3f2a1fecfa830328 annotatedSource NCIT_C189069 @default.
- Bf3f03363edf9918c3f2a1fecfa830328 annotatedTarget "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)." @default.