full name
dihydrolipoamide branched chain transacylase E2

synonyms
BCATE2, BCKAD-E2, BCKADE2, E2, E2B, DBT, ENSG00000137992

HGNC
HGNC:2698

Entrez Gene
Gene:1629

ENSEMBL
ENSG00000137992

location
chr: 1
start: 100652478
stop: 100715409
strand: -

OMIM
OMIM:248610: DBT (Autosomal recessive inheritance)
OMIM:248600: Maple syrup urine disease, type II

transcripts
ENST00000370132

pathways
2-oxobutanoate degradation [NCBI:142413] [BIOCYC:HUMAN_PWY-5130] [PUBMED:1346616] [PUBMED:3718468] [PUBMED:3555348] [PUBMED:1975493] [PUBMED:6643681] [PUBMED:3460076] [PUBMED:10502773] [PUBMED:16752391]
2-oxoisovalerate decarboxylation to isobutanoyl-CoA [NCBI:142335] [BIOCYC:HUMAN_PWY-5046] [PUBMED:9655933] [PUBMED:12795594]
Branched-chain amino acid catabolism [NCBI:1270161] [REACTOME:R-HSA-70895]
Glyoxylate metabolism and glycine degradation [NCBI:1270180] [REACTOME:R-HSA-389661] [PUBMED:15956068]
Leucine degradation, leucine => acetoacetate + acetyl-CoA [NCBI:413354] [KEGG:hsa_M00036]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives [NCBI:1270158] [REACTOME:R-HSA-71291]
Propanoate metabolism [NCBI:83004] [KEGG:hsa00640]
Valine, leucine and isoleucine degradation [NCBI:82952] [KEGG:hsa00280]
isoleucine degradation [NCBI:142358] [BIOCYC:HUMAN_ILEUDEG-PWY] [PUBMED:4150713] [PUBMED:773366]
leucine degradation [NCBI:142359] [BIOCYC:HUMAN_LEU-DEG2-PWY] [PUBMED:13892210] [PUBMED:4150714] [PUBMED:6773935] [PUBMED:773366] [PUBMED:6304077]
superpathway of methionine degradation [NCBI:142373] [BIOCYC:HUMAN_PWY-5328]
threonine degradation [NCBI:1108780] [BIOCYC:HUMAN_PWY66-428] [PUBMED:12361482] [PUBMED:18342636] [PUBMED:3888978] [PUBMED:7028754] [PUBMED:3718468] [PUBMED:12097150] [PUBMED:7827500] [PUBMED:728468]
valine degradation [NCBI:142387] [BIOCYC:HUMAN_VALDEG-PWY] [PUBMED:10745006] [PUBMED:3827880] [PUBMED:6933702]