KEGG   Homo sapiens (human): 79152Help
Entry
79152             CDS       T01001                                 

Gene name
FA2H, FAAH, FAH1, FAXDC1, SCS7, SPG35
Definition
(RefSeq) fatty acid 2-hydroxylase
  KO
K19703  
4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase [EC:1.14.18.6]
Organism
hsa  Homo sapiens (human)
Disease
H00833  
Neurodegeneration with brain iron accumulation (NBIA)
Brite
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.18  With another compound as one donor, and incorporation of one atom of oxygen into the other donor
    1.14.18.6  4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase
     79152 (FA2H)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
16q23
AA seq 372 aa AA seqDB search
MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISA
DLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWD
KDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLV
LYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHM
KPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTV
FAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFH
TLTPEKPHLKTQ
NT seq 1119 nt NT seq  +upstreamnt  +downstreamnt
atggcccccgctccgccccccgccgcctccttctcgccctccgaggtccagcggcgcctg
gcggccggcgcgtgctgggtccgccgcggggcccgcctctacgacctctccagcttcgtg
cggcaccacccggggggcgagcagctgctgcgggccagggcgggccaggacatcagcgcc
gacctggacgggccgccgcacaggcactcggccaacgcgcgccgctggctggagcagtac
tacgtgggagagctccgcggggagcagcagggctccatggagaacgagcctgtagccctt
gaggaaactcagaagacagatcctgctatggaaccacggttcaaagtggtggattgggac
aaggacctggtggactggcgaaagcctctcctgtggcaggtgggccacttgggagagaag
tacgatgagtgggttcaccagccggtgaccaggcccatccgcctcttccactcagacctc
attgagggcctctctaagactgtctggtacagtgtccccatcatctgggtgcccctggtg
ctgtatctcagctggtcctactaccgaacctttgcccagggcaacgtccgactcttcacg
tcatttacaacagagtacacggtggcagtgcccaagtccatgttccccgggctcttcatg
ctggggacattcctctggagcctcatcgagtacctcatccaccgcttcctgttccacatg
aagccccccagcgacagctattacctcatcatgctgcacttcgtcatgcacggccagcac
cacaaggcacccttcgacggctcccgcctggtcttcccccctgtgccagcctccctggtg
atcggcgtcttctacttgtgcatgcagctcatcctgcccgaggcagtagggggcactgtg
tttgcggggggcctcctgggctacgtcctctatgacatgacccattactacctgcacttt
ggctcgccgcacaagggctcctacctgtacagcctgaaggcccaccacgtcaagcaccac
tttgcacatcagaagtcaggatttggtatcagcactaaattgtgggattactgtttccac
accctcactccagagaaaccccacctgaagacgcagtga

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