Gene table of BCKDHA : branched chain keto acid dehydrogenase E1, alpha polypeptide

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BCKDHA	OMIM link	Number of associated genes	genes
PS248600	MAPLE SYRUP URINE DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	DBT, PPM1K, DLD, BCKDHB, BCKDHA

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Valine, leucine and isoleucine degradation	hsa00280	7.09
Metabolic pathways	hsa01100	2.49

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Metabolism	R-HSA-1430728	2.34
Branched-chain amino acid catabolism	R-HSA-70895	8.89

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	GO:0016624	7.44
lyase activity	GO:0016829	4.53
carbon-carbon lyase activity	GO:0016830	5.81
carboxy-lyase activity	GO:0016831	6.15
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
alpha-ketoacid dehydrogenase activity	GO:0003826	9.05
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	GO:0003863	9.05
metal ion binding	GO:0046872	1.41
oxidoreductase activity, acting on the aldehyde or oxo group of donors	GO:0016903	5.87
oxidoreductase activity	GO:0016491	3.12