BCKDHB Chromosome 6
Branched chain keto acid dehydrogenase E1 subunit beta
Upload your DNA to see your personal genotypes for variants in BCKDHB.
What This Gene Does
This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Branched chain alpha-keto acid dehydrogenase complex subunits
Locus Type
gene with protein product
Location
6q14.1
Ensembl
ENSG00000083123
Associated Conditions (9)
Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
BCKDHB-related disorder
Familial cancer of breast
Sarcoma
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Abnormality of metabolism/homeostasis
Key Variants
RS1174121102
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1B, Maple syrup urine disease
Health Risk
RS140373763
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease
Health Risk
RS142858149
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1B, Maple syrup urine disease type 1A
Health Risk
RS143427811
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1B, BCKDHB-related disorder
Health Risk
RS147719822
Conflicting classifications of pathogenicity
Maple syrup urine disease, BCKDHB-related disorder, Sarcoma
Health Risk
RS148582754
Conflicting classifications of pathogenicity
Maple syrup urine disease type 1B, Maple syrup urine disease type 1B
Health Risk
RS1554205541
Conflicting classifications of pathogenicity
Maple syrup urine disease, BCKDHB-related disorder, Maple syrup urine disease type 1A
Health Risk
RS1562104211
Conflicting classifications of pathogenicity
Maple syrup urine disease type 1B, Maple syrup urine disease type 1B
Health Risk
RS1774481189
Conflicting classifications of pathogenicity
Maple syrup urine disease, Inborn genetic diseases, Maple syrup urine disease
Health Risk
RS2127726114
Conflicting classifications of pathogenicity
Health Risk
RS371518124
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease type 1B
Health Risk
RS373772596
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease
Health Risk
All Variants (203)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1582275277 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1772645594 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1772736212 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1772747003 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1777825845 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1B, Maple syrup urine disease |
| RS2127779345 | Health Risk | Likely pathogenic | — |
| RS2481558517 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2481559149 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2481559722 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1B, Maple syrup urine disease |
| RS2481575908 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2481576688 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2481883298 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2481884229 | Health Risk | Likely pathogenic | — |
| RS2481899561 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2481901220 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2481919576 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2481920373 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2481921493 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2482241490 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS2482243041 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1B, Maple syrup urine disease type 1B |
| RS2482267558 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2482270092 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2482927479 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS2533310807 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS2533311246 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2533313675 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2533314262 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS398124600 | Health Risk | Likely pathogenic | — |
| RS398124604 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS537988425 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease, Maple syrup urine disease |
| RS756647770 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease, Maple syrup urine disease type 1A |
| RS762419044 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1B, Maple syrup urine disease |
| RS763645251 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS776270090 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS797045411 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1B, Maple syrup urine disease type 1B |
| RS886043103 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1B, Maple syrup urine disease type 1B |
| RS933828560 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS962489830 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1B, Maple syrup urine disease type 1A |
| RS987877790 | Health Risk | Likely pathogenic | — |
| RS994415333 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1002472211 | Health Risk | Pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS1057516572 | Health Risk | Pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS1057516795 | Health Risk | Pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS1057516799 | Health Risk | Pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1B, Maple syrup urine disease type 1A |
| RS1064796892 | Health Risk | Pathogenic | — |
| RS1159943999 | Health Risk | Pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS121965005 | Health Risk | Pathogenic | Maple syrup urine disease type 1B, Maple syrup urine disease type 1B |
| RS1235461740 | Health Risk | Pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease type 1B |
| RS1248040495 | Health Risk | Pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1304667430 | Health Risk | Pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |