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Official Full Name
fatty acid 2-hydroxylase
Background
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.
Synonyms
FA2H; fatty acid 2-hydroxylase; fatty acid hydroxylase domain containing 1 , FAXDC1, spastic paraplegia 35 (autosomal recessive) , SPG35; FAAH; fatty acid hydroxylase; FLJ25287; FA2H_HUMAN; FAH1; Fatty acid 2 hydroxylase; Fatty acid alpha hydroxylase; Fatty acid alpha-hydroxylase; Fatty acid hydroxylase domain containing 1; FAXDC1; SCS7; spastic paraplegia 35 (autosomal recessive); SPG35; cb1044; zgc:153777