Branched-Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide

Alternative Names

BCKDHA
BCKD, E1-Alpha Subunit
BCKDE1A

Length

27,185 bases

No. of Exons

No. of isoforms

Protein Name

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

Molecular Mass

50471 Da

Amino Acid Count

445

Genomic Location

chr19:41,397,817-41,425,001

Gene Map Locus

19q13.2

Description

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000709.4:c.1227_1229del	Sudan	NC_000019.10:g.41424497_41424499del		Likely Pathogenic	Maple Syrup Urine Disease	NG_013004.1:g.31709_31711del; NM_000709.4:c.1227_1229del; NP_000700.1:p.Phe409_Ser410delinsLeu
NM_000709.4:c.890G>A	Lebanon	chr19:41422665	Uncertain Significance	Likely Pathogenic	Maple Syrup Urine Disease	NG_013004.1:g.29877G>A; NM_000709.4:c.890G>A; NP_000700.1:p.Arg297His	200137189	93376

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Other Reports

Lebanon

Tabbouche et al, 2014, studied a Lebanese patient with Maple Syrup Urine Disease and found a gross microdeletion in the BCKDHA gene. The deletion, from exon 5 to exon 8, was predicted to result in a frameshift, premature termination and complete loss of function of the protein.

External Links

https://medlineplus.gov/genetics/gene/bckdha/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=BCKDHA

Contributors

Asha Deepthi: 09.06.2021
Pratibha Nair: 15.11.2020
Sayeeda Hana: 18.04.2020

Edit History

Asha Deepthi: 09.06.2021
Pratibha Nair: 01.06.2021
Pratibha Nair: 30.03.2021
Pratibha Nair: 15.11.2020
Sayeeda Hana: 19.04.2020
Sayeeda Hana: 18.04.2020

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