FA2H
entrez
79152
canonical
uniprot
Q7L5A8
canonical
ensembl
ENSG00000103089
resolver
ensp
ENSP00000219368
resolver
ensp
ENSP00000778219
resolver
genesymbol
FA2H
resolver
genesymbol_syn
FAAH
resolver
genesymbol_syn
FAXDC1
resolver
hgnc
HGNC:21197
resolver
uniprot
B7Z8T6
resolver
uniprot
O75213
resolver
uniprot
Q96DK1
resolver
uniprot
Q9H1A5
resolver
uniprot_entry
FA2H_HUMAN
resolver
uniprot_sec
B7Z8T6
resolver
uniprot_sec
O75213
resolver
uniprot_sec
Q96DK1
resolver
uniprot_sec
Q9H1A5
resolver
amino_acid_sequence
MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISADLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWDKDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLVLYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHMKPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTVFAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFHTLTPEKPHLKTQ
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration (SPG35) [MIM:612319]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. {ECO:0000269|PubMed:19068277, ECO:0000269|PubMed:20104589, ECO:0000269|PubMed:20853438}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.18.-
uniprot
proteins
function
FUNCTION: Catalyzes the hydroxylation of free fatty acids at the C-2 position to produce 2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:15337768, PubMed:15863841, PubMed:17355976, PubMed:22517924). FA2H is stereospecific for the production of (R)-2-hydroxy fatty acids (PubMed:22517924). Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath (By similarity). Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier (PubMed:17355976). Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters in sebaceous gland, specifically regulating hair follicle homeostasis (By similarity). Involved in the synthesis of sphingolipids of plasma membrane rafts, controlling lipid raft mobility and trafficking of raft-associated proteins (By similarity). {ECO:0000250|UniProtKB:Q5MPP0, ECO:0000269|PubMed:15337768, ECO:0000269|PubMed:15863841, ECO:0000269|PubMed:17355976, ECO:0000269|PubMed:22517924}.
uniprot
proteins
mass_dalton
42791
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid metabolism. {ECO:0000269|PubMed:15863841, ECO:0000269|PubMed:22517924}.; PATHWAY: Sphingolipid metabolism; galactosylceramide biosynthesis. {ECO:0000269|PubMed:22517924}.
uniprot
proteins
protein_family
SCS7 subfamily
uniprot
proteins
protein_family
Sterol desaturase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15337768
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
15863841
uniprot
proteins
pubmed
17355976
uniprot
proteins
pubmed
19068277
uniprot
proteins
pubmed
20104589
uniprot
proteins
pubmed
20853438
uniprot
proteins
pubmed
22517924
uniprot
proteins
sequence_length
372
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q5MPP0}; Multi-pass membrane protein {ECO:0000269|PubMed:15337768}. Microsome membrane {ECO:0000269|PubMed:15337768}; Multi-pass membrane protein {ECO:0000269|PubMed:15337768}.
uniprot
proteins
transmembrane_region
TRANSMEM 168..188; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 213..233; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 268..288; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 290..310; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins