Literature associating FA2H and spastic quadriplegia
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 ...