ACAD8
entrez
27034
canonical
uniprot
Q9UKU7
canonical
ensembl
ENSG00000151498
resolver
ensp
ENSP00000281182
resolver
ensp
ENSP00000676940
resolver
ensp
ENSP00000676951
resolver
ensp
ENSP00000747113
resolver
genesymbol
ACAD8
resolver
genesymbol_syn
ARC42
resolver
genesymbol_syn
IBD
resolver
hgnc
HGNC:87
resolver
uniprot
B7Z5W4
resolver
uniprot
Q6ZWP6
resolver
uniprot
Q9BUS8
resolver
uniprot_entry
ACAD8_HUMAN
resolver
uniprot_sec
B7Z5W4
resolver
uniprot_sec
Q6ZWP6
resolver
uniprot_sec
Q9BUS8
resolver
amino_acid_sequence
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRKAAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCLTEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGSNEVMRILISRSLLQE
uniprot
proteins
disease_involvement
DISEASE: Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]: An autosomal recessive metabolic disorder characterized by plasma carnitine deficiency and elevated C4-acylcarnitine. Patients manifest variable clinical features including failure to thrive, seizures, anemia, muscular hypotonia and developmental delay. Some patients may be asymptomatic. {ECO:0000269|PubMed:12359132, ECO:0000269|PubMed:15505379, ECO:0000269|PubMed:16857760}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.8.5
uniprot
proteins
function
FUNCTION: Isobutyryl-CoA dehydrogenase which catalyzes the conversion of 2-methylpropanoyl-CoA to (2E)-2-methylpropenoyl-CoA in the valine catabolic pathway (PubMed:11013134, PubMed:12359132, PubMed:16857760). To a lesser extent, also able to catalyze the oxidation of (2S)-2-methylbutanoyl-CoA (PubMed:11013134, PubMed:12359132). {ECO:0000269|PubMed:11013134, ECO:0000269|PubMed:12359132, ECO:0000269|PubMed:16857760}.
uniprot
proteins
mass_dalton
45070
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-valine degradation. {ECO:0000269|PubMed:12359132, ECO:0000269|PubMed:16857760}.
uniprot
proteins
protein_family
Acyl-CoA dehydrogenase family
uniprot
proteins
pubmed
10235267
uniprot
proteins
pubmed
10524212
uniprot
proteins
pubmed
11013134
uniprot
proteins
pubmed
12359132
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14752098
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15505379
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16857760
uniprot
proteins
pubmed
21269460
uniprot
proteins
sequence_length
415
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11013134, ECO:0000269|PubMed:12359132}.
uniprot
proteins