KEGG   Homo sapiens (human): 3712Help
Entry
3712              CDS       T01001                                 

Gene name
IVD, ACAD2
Definition
(RefSeq) isovaleryl-CoA dehydrogenase
  KO
K00253  isovaleryl-CoA dehydrogenase [EC:1.3.8.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00280  Valine, leucine and isoleucine degradation
hsa01100  Metabolic pathways
Module
hsa_M00036  Leucine degradation, leucine => acetoacetate + acetyl-CoA
Disease
H00173  Isovaleric acidemia
H01400  Secondary hyperammonemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00280 Valine, leucine and isoleucine degradation
    3712 (IVD)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.3  Acting on the CH-CH group of donors
   1.3.8  With a flavin as acceptor
    1.3.8.4  isovaleryl-CoA dehydrogenase
     3712 (IVD)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Acyl-CoA_dh_1 Acyl-CoA_dh_N Acyl-CoA_dh_M Acyl-CoA_dh_2
Motif
Other DBs
NCBI-GeneID: 3712
NCBI-ProteinID: NP_002216
OMIM: 607036
HGNC: 6186
Ensembl: ENSG00000128928
Vega: OTTHUMG00000129984
Pharos: P26440(Tbio)
UniProt: P26440 A0A0S2Z422 A0A0A0MT83
Structure
PDB: 

Position
15q15.1
AA seq 423 aa AA seqDB search
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEH
LAPKAQEIDRSNEFKNLREFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASG
AVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKA
EKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKL
DKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLD
HTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEGHCTAKDCAGV
ILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNA
DFH
NT seq 1272 nt NT seq  +upstreamnt  +downstreamnt
atggcgactgcgactcggctgctggggtggcgtgtggcgagctggaggctgcggccgccg
cttgccggcttcgtttcccagcgggcccactcgcttttgcccgtggacgatgcaatcaat
gggctaagcgaggagcagaggcagcttcgtcagaccatggctaagttccttcaggagcac
ctggcccccaaggcccaggagatcgatcgcagcaatgagttcaagaacctgcgagaattt
tggaagcagctggggaacctgggcgtattgggcatcacagcccctgttcagtatggcggc
tccggcctgggctacctggagcatgtgctggtgatggaggagatatcccgagcttccgga
gcagtggggctcagttacggtgcccactccaacctctgcatcaaccagcttgtacgcaat
gggaatgaggcccagaaagagaagtatctcccgaagctgatcagtggtgagtacatcgga
gccctggccatgagtgagcccaatgcaggctctgatgttgtctctatgaagctcaaagcg
gaaaagaaaggaaatcactacatcctgaatggcaacaagttctggatcactaatggccct
gatgctgacgtcctgattgtctatgccaagacagatctggctgctgtgccagcttctcgg
ggcatcacagccttcattgtggagaagggtatgcctggctttagcacctctaagaagctg
gacaagctggggatgaggggctctaacacctgtgagctaatctttgaagactgcaagatt
cctgctgccaacatcctgggccatgagaataagggtgtctacgtgctgatgagtgggctg
gacctggagcggctggtgctggccggggggcctcttgggctcatgcaagcggtcctggac
cacaccattccctacctgcacgtgagggaagcctttggccagaagatcggccacttccag
ttgatgcaggggaagatggctgacatgtacacccgcctcatggcgtgtcggcagtatgtc
tacaatgtcgccaaggcctgcgatgagggccattgcactgctaaggactgtgcaggtgtg
attctttactcagctgagtgtgccacacaggtagccctggacggcattcagtgttttggt
ggcaatggctacatcaatgactttcccatgggccgctttcttcgagatgccaagctgtat
gagataggggctgggaccagcgaggtgaggcggctggtcatcggcagagccttcaatgca
gactttcactag

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