DISEASES

Disease-gene associations mined from literature

Literature associating FA2H and hereditary spastic paraplegia 76

FA2H [ENSP00000219368]

Fatty acid alpha-hydroxylase; Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids; Belongs to the sterol desaturase family. SCS7 subfamily.

Synonyms:  FA2H,  FA2Hp,  hFA2H,  B7Z8T6,  FA2H-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM