GCDH
entrez
2639
canonical
uniprot
Q92947
canonical
ensembl
ENSG00000105607
resolver
ensp
ENSP00000222214
resolver
ensp
ENSP00000519364
resolver
genesymbol
GCDH
resolver
hgnc
HGNC:4189
resolver
uniprot
A8K2Z2
resolver
uniprot
O14719
resolver
uniprot_entry
GCDH_HUMAN
resolver
uniprot_sec
A8K2Z2
resolver
uniprot_sec
O14719
resolver
activity_regulation
ACTIVITY REGULATION: Strongly inhibited by MCPA-CoA, a metabolite of hypoglycin which is present in unripened fruit of the ackee tree. {ECO:0000269|PubMed:6423663}.
uniprot
proteins
amino_acid_sequence
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLMPRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQRQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIRGFLLEKGMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRMQFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHVIRHAMNLEAVNTYEGTHDIHALILGRAITGIQAFTASK
uniprot
proteins
disease_involvement
DISEASE: Glutaric aciduria 1 (GA1) [MIM:231670]: An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. {ECO:0000269|PubMed:14707522, ECO:0000269|PubMed:18775954, ECO:0000269|PubMed:24973495, ECO:0000269|PubMed:8541831, ECO:0000269|PubMed:8900227, ECO:0000269|PubMed:8900228, ECO:0000269|PubMed:9600243, ECO:0000269|PubMed:9711871}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.8.6
uniprot
proteins
function
FUNCTION: Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive. {ECO:0000269|PubMed:17176108, ECO:0000269|PubMed:6423663, ECO:0000269|PubMed:8541831}.
uniprot
proteins
mass_dalton
48127
uniprot
proteins
mutagenesis
MUTAGEN 414; /note="E->D: Reduced catalytic activity.
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid metabolism; lysine degradation.; PATHWAY: Amino-acid metabolism; tryptophan metabolism.
uniprot
proteins
protein_family
Acyl-CoA dehydrogenase family
uniprot
proteins
pubmed
1438360
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14707522
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15274622
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17176108
uniprot
proteins
pubmed
18020372
uniprot
proteins
pubmed
18775954
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24973495
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
6423663
uniprot
proteins
pubmed
8541831
uniprot
proteins
pubmed
8900227
uniprot
proteins
pubmed
8900228
uniprot
proteins
pubmed
9600243
uniprot
proteins
pubmed
9711871
uniprot
proteins
sequence_length
438
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix.
uniprot
proteins