DBT |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DBT (HGNC:2698) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- dihydrolipoamide branched chain transacylase E2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- BCOADC-E2, BCKAD-E2, BCKDH-E2
- %HI
- 14.95(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.26(Read more about gnomAD LOEUF score)
- Cytoband
- 1p21.2
- Genomic Coordinates
-
GRCh37/hg19: chr1:100652475-100715390 NCBI Ensembl UCSC GRCh38/hg38: chr1:100186919-100249834 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001918.5 ENST00000370132.8 (Read more about MANE Select)
- Function
- The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component.... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-18909
ClinGen Curation ID:
CCID:006973
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_000001.10)
(NC_000001.11)