BCKDHA Chromosome 19
Branched chain keto acid dehydrogenase E1 subunit alpha
Upload your DNA to see your personal genotypes for variants in BCKDHA.
What This Gene Does
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Branched chain alpha-keto acid dehydrogenase complex subunits
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000248098
Associated Conditions (11)
Maple syrup urine disease
Maple syrup urine disease type 1A
Inborn genetic diseases
BCKDHA-related disorder
Malignant tumor of esophagus
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Cervical cancer
Likely inborn error of metabolism
Key Variants
RS114178789
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease
Health Risk
RS1251140817
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease
Health Risk
RS1303770209
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease
Health Risk
RS1326623899
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Inborn genetic diseases
Health Risk
RS137852873
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease
Health Risk
RS137852876
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease
Health Risk
RS137960127
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Inborn genetic diseases
Health Risk
RS140322984
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, BCKDHA-related disorder
Health Risk
RS142967869
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Inborn genetic diseases
Health Risk
RS143065803
Conflicting classifications of pathogenicity
Maple syrup urine disease, Inborn genetic diseases, Maple syrup urine disease
Health Risk
RS143608852
Conflicting classifications of pathogenicity
Maple syrup urine disease, Inborn genetic diseases, BCKDHA-related disorder
Health Risk
RS145901144
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease
Health Risk
All Variants (203)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886054462 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS887411374 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS1200370519 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1213596075 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1322799946 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1325848718 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS137852874 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS1437382824 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1459441231 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1555764014 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1555766066 | Health Risk | Likely pathogenic | — |
| RS1555767028 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease, Maple syrup urine disease type 1A |
| RS1555767090 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1568499702 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS188135164 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS201168715 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS2039242789 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2039285328 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2039375116 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2039381583 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2039389302 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2039405116 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS2039407382 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2098470870 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2122122667 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2122146208 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2122146680 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2123232744 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2467811607 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS2513443827 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513452038 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS2513452044 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS2513452055 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513452327 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513452355 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513452452 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513454323 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513454343 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513454376 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513454434 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513457503 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513459717 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513459825 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513459912 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513460449 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513460533 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513460625 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2513460977 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS2513461024 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS2513462216 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |