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LMP004286

Record overview

LMPD IDLMP004286
Gene ID79152
SpeciesHomo sapiens (Human)
Gene Namefatty acid 2-hydroxylase
Gene SymbolFA2H
SynonymsFAAH; FAH1; FAXDC1; SCS7; SPG35
Alternate namesfatty acid 2-hydroxylase; fatty acid alpha-hydroxylase; fatty acid hydroxylase domain containing 1; spastic paraplegia 35 (autosomal recessive)
Chromosome16
Map Location16q23
EC Number1.-.-.-
SummaryThis 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.[provided by RefSeq, Mar 2010]
OrthologsView orthologs and multiple alignments for FA2H

Proteins

fatty acid 2-hydroxylase
Refseq ID:NP_077282
Protein GI:205360949
UniProt ID:Q7L5A8
mRNA ID:NM_024306
Length:372
RefSeq Status:REVIEWED
MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISADLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVAL
EETQKTDPAMEPRFKVVDWDKDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLVLYLSWSYYRTFAQGNVRLFT
SFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHMKPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTV
FAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFHTLTPEKPHLKTQ