BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)

2014-11-01  

Identity

HGNC
BCKDHB
LOCATION
6q14.1
LOCUSID
594
ALIAS
BCKDE1B,BCKDH E1-beta,E1B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 594
MIM: 248611
HGNC: 987
Ensembl: ENSG00000083123

Variants:

dbSNP: 594
ClinVar: 594
TCGA: ENSG00000083123
COSMIC: BCKDHB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000083123ENST00000320393P21953
ENSG00000083123ENST00000320393A0A140VKB3
ENSG00000083123ENST00000356489P21953
ENSG00000083123ENST00000356489A0A140VKB3
ENSG00000083123ENST00000369760P21953

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
348830032022Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.0
348830032022Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.0
341871352021Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.3
345112902021Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults.2
341871352021Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.3
345112902021Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults.2
325151402020Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.2
325151402020Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.2
293069282018Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.2
293070172018Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.5
302984942018[Mutation analysis and prenatal diagnosis for a pedigree affected with maple syrup urine disease].0
293069282018Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.2
293070172018Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.5
302984942018[Mutation analysis and prenatal diagnosis for a pedigree affected with maple syrup urine disease].0
268307102016Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.3

Citation

Dessen P

BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60725/bckdhb-(branched-chain-keto-acid-dehydrogenase-e1-subunit-beta)