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DBT

Synonyms
BCATE2, BCKAD-E2, BCKADE2, BCKDH-E2, BCOADC-E2, E2, E2B
External resources
Summary
The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
8
Likely pathogenic
6
VUS
4,643
Likely benign
1,131
Benign
395

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on DBT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of head or neck
35.7%
Abnormality of the nervous system
35.7%
Abnormality of the genitourinary system
21.4%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of limbs
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
14.3%
Growth abnormality
14.3%
Abnormal cellular phenotype
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the immune system
7.1%
Abnormality of the integument
7.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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