Hs01527808_cn

• Gene Symbol: BCKDHA
• Assay Reference Genome Location: Chr.19:41410736 on build GRCh38
• Cytoband: 19q13.2

Target Gene Details

• Entrez Gene ID: 593
• Gene Name: branched chain keto acid dehydrogenase E1, alpha polypeptide
• Gene Aliases: BCKDE1A, MSU, MSUD1, OVD1A
• Location: Chr.19:41397789-41425005 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCKDHA	NM_000709.3	2	247	NP_000700.1
	NM_001164783.1	2	247	NP_001158255.1
	AB209828.1	2	208	BAD93065.1
	AK298188.1	2	149
	AK313300.1	2	215
	AL833143.1	2	219	CAH56215.1
	BC007878.2	2	213	AAH07878.1
	BC008933.2	2	209	AAH08933.1
	BC023983.1	2	222	AAH23983.1
	BI910860.1	2	248
	J04474.1	2	205	AAB59549.1
	M22221.1			AAA35590.1
	Z14093.1	2	221	CAA78475.1

More Information

• Set Membership: Intragenic, Exonic, non-DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

branched-chain amino acid catabolic process
glyoxylate metabolic process
oxidation-reduction process

Function(s)

alpha-ketoacid dehydrogenase activity
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
protein binding
carboxy-lyase activity
metal ion binding