BCKDHB |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- BCKDHB (HGNC:987) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- branched chain keto acid dehydrogenase E1 subunit beta
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- OVD1B
- %HI
- 21.83(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.21(Read more about gnomAD LOEUF score)
- Cytoband
- 6q14.1
- Genomic Coordinates
-
GRCh37/hg19: chr6:80816327-81055987 NCBI Ensembl UCSC GRCh38/hg38: chr6:80106610-80466676 NCBI Ensembl UCSC - MANE Select Transcript
- NM_183050.4 ENST00000320393.9 (Read more about MANE Select)
- Function
- Together with BCKDHA forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the branched-chain amino-acids valine, leucine and isoleucine producing CO2 and acyl-CoA which is subsequently utilized to produce energy. The E1 subunit catalyzes the first step with the decarboxylation of the alpha-ketoacid forming an enzyme-product intermed... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-10939
ClinGen Curation ID:
CCID:006739
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- maple syrup urine disease Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)