DBT (dihydrolipoamide branched chain transacylase E2)

2014-11-01  

Identity

HGNC
LOCATION
1p21.2
LOCUSID
ALIAS
BCATE2,BCKAD-E2,BCKADE2,BCKDH-E2,BCOADC-E2,E2,E2B
FUSION GENES

Other Information

Locus ID:

NCBI: 1629
MIM: 248610
HGNC: 2698
Ensembl: ENSG00000137992

Variants:

dbSNP: 1629
ClinVar: 1629
TCGA: ENSG00000137992
COSMIC: DBT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137992ENST00000370131Q5VVL7
ENSG00000137992ENST00000370132P11182

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Propanoate metabolismKEGGko00640
Valine, leucine and isoleucine degradationKEGGhsa00280
Propanoate metabolismKEGGhsa00640
Metabolic pathwaysKEGGhsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
115099942001Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.12
179222172007Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.5
114489702001Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.3
168612352006Structure of the subunit binding domain and dynamics of the di-domain region from the core of human branched chain alpha-ketoacid dehydrogenase complex.3
147689492003Characterization of a lipoyl domain-independent B-cell autoepitope on the human branched-chain acyltransferase in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis.2
183781742008Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.1
185339432008Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.1
194803182009Molecular genetics of maple syrup urine disease in the Turkish population.1
205701982010Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.1

Citation

Dessen P

DBT (dihydrolipoamide branched chain transacylase E2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62308/dbt