Branched-Chain Keto Acid Dehydrogenase E1, Beta Polypeptide

Alternative Names

BCKDHB

Length

239,644 bases

No. of Exons

No. of isoforms

Protein Name

2-Oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial

Molecular Mass

43122 Da

Amino Acid Count

392

Genomic Location

chr6:80,106,609-80,469,087

Gene Map Locus

6p14.1

Description

This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. [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_015506.3:c.472T>C	Lebanon	chr1:45508838	Likely Pathogenic			NG_013378.1:g.13655T>C; NM_015506.3:c.472T>C; NP_056321.2:p.Phe158Leu	201312386	203830
NM_183050.4:c.1016C>T	Lebanon	chr6:80273199	Pathogenic	Pathogenic		NG_009775.1:g.171573C>T; NM_183050.4:c.1016C>T; NP_000047.1:p.Ser339Leu	398124561	96563
NM_183050.4:c.490G>A	Jordan	NC_000006.12:g.80168887G>A		Likely Pathogenic	Maple Syrup Urine Disease	NG_009775.2:g.67261G>A; NM_183050.4:c.490G>A; NP_898871.1:p.Ala164Thr
NM_183050.4:c.637G>T	United Arab Emirates	NC_000006.12:g.80171285G>T	Likely Pathogenic	Likely Pathogenic	Maple Syrup Urine Disease	NG_009775.2:g.69659G>T; NM_183050.4:c.637G>T; NP_898871.1:p.Val213Phe	994415333	390609
NM_183050.4:c.82_92GGCGCGGGGCT[1]	Lebanon	chr6:80106775-80106785	Pathogenic	Pathogenic	Maple Syrup Urine Disease	NG_009775.2:g.5149_5159GGCGCGGGGCT[1]; NM_183050.4:c.82_92GGCGCGGGGCT[1]; NP_000047.1:p.Ala32fs	398124601	96618
NM_183050.4:c.995C>T	Lebanon	chr6:80273178	Likely Pathogenic, Pathogenic	Pathogenic	Maple Syrup Urine Disease	NG_009775.2:g.171552C>T; NM_183050.4:c.995C>T; NP_000047.1:p.Pro332Leu	1554205541	432059

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External Links

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

Contributors

Pratibha Nair: 11.01.2022
Asha Deepthi: 09.06.2021
Pratibha Nair: 28.10.2020
Pratibha Nair: 26.04.2020
Sayeeda Hana: 18.04.2020

Edit History

Pratibha Nair: 11.01.2022
Asha Deepthi: 09.06.2021
Pratibha Nair: 28.10.2020
Pratibha Nair: 26.04.2020
Sayeeda Hana: 18.04.2020

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