ACADSB
entrez
36
canonical
uniprot
P45954
canonical
ensembl
ENSG00000196177
resolver
ensp
ENSP00000357862
resolver
ensp
ENSP00000357873
resolver
genesymbol
ACADSB
resolver
hgnc
HGNC:91
resolver
uniprot
A0A0S2Z3P9
resolver
uniprot
B4DQ51
resolver
uniprot
Q5SQN6
resolver
uniprot
Q96CX7
resolver
uniprot_entry
A0A0S2Z3P9_HUMAN
resolver
uniprot_entry
ACDSB_HUMAN
resolver
uniprot_sec
B4DQ51
resolver
uniprot_sec
Q5SQN6
resolver
uniprot_sec
Q96CX7
resolver
activity_regulation
ACTIVITY REGULATION: Competitively inhibited by valproyl-CoA. {ECO:0000269|PubMed:21430231}.
uniprot
proteins
amino_acid_sequence
MEGLAVRLLRGSRLLRRNFLTCLSSWKIPPHVSKSSQSEALLNITNNGIHFAPLQTFTDEEMMIKSSVKKFAQEQIAPLVSTMDENSKMEKSVIQGLFQQGLMGIEVDPEYGGTGASFLSTVLVIEELAKVDASVAVFCEIQNTLINTLIRKHGTEEQKATYLPQLTTEKVGSFCLSEAGAGSDSFALKTRADKEGDYYVLNGSKMWISSAEHAGLFLVMANVDPTIGYKGITSFLVDRDTPGLHIGKPENKLGLRASSTCPLTFENVKVPEANILGQIGHGYKYAIGSLNEGRIGIAAQMLGLAQGCFDYTIPYIKERIQFGKRLFDFQGLQHQVAHVATQLEAARLLTYNAARLLEAGKPFIKEASMAKYYASEIAGQTTSKCIEWMGGVGYTKDYPVEKYFRDAKIGTIYEGASNIQLNTIAKHIDAEY
uniprot
proteins
disease_involvement
DISEASE: Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]: Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features. {ECO:0000269|PubMed:10832746, ECO:0000269|PubMed:11013134, ECO:0000269|PubMed:16317551}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.8.1
uniprot
proteins
ec_number
1.3.8.5
uniprot
proteins
function
FUNCTION: Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the proR-proR stereospecific alpha,beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, resulting in the formation of trans-2-enoyl-CoA ((2E)-enoyl-CoA) (PubMed:10832746, PubMed:11013134, PubMed:21430231, PubMed:7698750). Among the different mitochondrial acyl-CoA dehydrogenases, acts specifically on short and branched chain acyl-CoA derivatives such as (S)-2-methylbutyryl-CoA as well as short straight chain acyl-CoAs such as butyryl-CoA (butanoyl-CoA) (PubMed:10832746, PubMed:11013134, PubMed:21430231, PubMed:7698750). Plays an important role in the metabolism of L-isoleucine by catalyzing the dehydrogenation of 2-methylbutyryl-CoA, one of the steps of the L-isoleucine catabolic pathway (PubMed:10832746, PubMed:11013134). Can also act on valproyl-CoA, a metabolite of valproic acid, an antiepileptic drug (PubMed:8660691). {ECO:0000269|PubMed:10832746, ECO:0000269|PubMed:11013134, ECO:0000269|PubMed:21430231, ECO:0000269|PubMed:7698750, ECO:0000269|PubMed:8660691}.
uniprot
proteins
mass_dalton
47485
uniprot
proteins
mutagenesis
MUTAGEN 137; /note="V->L: Decreased acyl-CoA dehydrogenase activity."; /evidence="ECO:0000269|PubMed:12855692"; MUTAGEN 138; /note="F->L: Increased acyl-CoA dehydrogenase activity. No effect on substrate specificity."; /evidence="ECO:0000269|PubMed:12855692"; MUTAGEN 210; /note="S->N: Increased acyl-CoA dehydrogenase activity. Changed substrate specificity."; /evidence="ECO:0000269|PubMed:12855692"; MUTAGEN 416; /note="A->T: Increased acyl-CoA dehydrogenase activity. No effect on substrate specificity."; /evidence="ECO:0000269|PubMed:12855692
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; mitochondrial fatty acid beta-oxidation. {ECO:0000269|PubMed:11013134}.; PATHWAY: Amino-acid degradation; L-isoleucine degradation. {ECO:0000269|PubMed:11013134}.
uniprot
proteins
protein_family
Acyl-CoA dehydrogenase family
uniprot
proteins
pubmed
10832746
uniprot
proteins
pubmed
11013134
uniprot
proteins
pubmed
12855692
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16317551
uniprot
proteins
pubmed
17564966
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21237683
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21430231
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7698750
uniprot
proteins
pubmed
8660691
uniprot
proteins
sequence_length
432
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:11013134}.
uniprot
proteins