Gene: BCKDHB

Alternate names for this Gene: BCKDE1B|BCKDH E1-beta|E1B

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q14.1

Description of this Gene: branched chain keto acid dehydrogenase E1 subunit beta

Type of Gene: protein-coding

rs17810023 in BCKDHB gene and Bipolar Disorder PMID 29391396 2018 Bipolar disorder with binge eating behavior: a genome-wide association study implicates PRR5-ARHGAP8.

rs12209419 in BCKDHB gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs12207986 in BCKDHB gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs17810023 in BCKDHB gene and Bulimia PMID 29391396 2018 Bipolar disorder with binge eating behavior: a genome-wide association study implicates PRR5-ARHGAP8.

rs7753695 in BCKDHB gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs2322633 in BCKDHB gene and Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs6931421 in BCKDHB gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs1057516799 in BCKDHB gene and Maple Syrup Urine Disease PMID 8430702 1993 Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.

PMID 16786533 2006 Mutational spectrum of maple syrup urine disease in Spain.

PMID 22350544 2012 Wernicke-like encephalopathy during classic maple syrup urine disease decompensation.

PMID 14742428 2004 Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.

PMID 27507644 2017 In silico analysis of novel mutations in maple syrup urine disease patients from Iran.

PMID 27682710 2016 Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

PMID 26786177 2016 Living related versus deceased donor liver transplantation for maple syrup urine disease.

PMID 17922217 2007 Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.

PMID 19480318 2009 Molecular genetics of maple syrup urine disease in the Turkish population.

PMID 11112664 2001 Gene preference in maple syrup urine disease.

PMID 24881969 2014 Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.

PMID 8161368 1993 Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.

PMID 11509994 2001 Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

PMID 22326532 2012 These two novel mutations, R170H and Q346R result in the patient's clinical manifestation of the classic form of MSUD.

PMID 22326532 2012 Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).

PMID 20307994 2010 Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

PMID 17922217 2007 Among the known mutant alleles, p.Gly278Ser in the BCKDHB gene was relatively frequent and also associated with a mild MSUD variant.

PMID 14567968 2004 Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression.

PMID 28830848 2018 MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.

PMID 28417071 2017 Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

PMID 25381949 2015 A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).

PMID 26453840 2015 Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

PMID 14517957 2003 Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.

PMID 4517957 1973 Cytodiagnosis of HCG-secreting choriocarcinoma of the stomach. Report of a case.

PMID 26232051 2015 Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.

PMID 18378174 2008 Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 8312380 1994 Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.

PMID 22593002 2012 Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.

PMID 19282776 2009 Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.

PMID 15884622 2005 Maple syrup urine disease-treatment and outcome in patients of Turkish descent in Germany.

PMID 24995870 2014 Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

PMID 24772966 2013 Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.

PMID 25333063 2014 Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.

PMID 9375800 1997 Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease.

PMID 28197878 2017 Thus the novel homozygous mutation p.Asp173Tyr and the founder homozygous mutation p.Arg168His may be responsible for the clinical presentation of the two CMSUD patients, facilitating the future genetic counselling and prenatal diagnosis.

PMID 16468966 2006 Elective liver transplantation for the treatment of classical maple syrup urine disease.

PMID 22727569 2012 Analysis of gene mutations in Chinese patients with maple syrup urine disease.

PMID 26830710 2016 Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

PMID 21484869 2011 Movement disorders in adult surviving patients with maple syrup urine disease.

PMID 11448970 2001 Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.

PMID 26257134 2015 Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

rs10080237 in BCKDHB gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs723588 in BCKDHB gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12527712 in BCKDHB gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.