Property Summary

NCBI Gene PubMed Count 51
Grant Count 360
R01 Count 39
Funding $142,655,826.1
PubMed Score 658.38
PubTator Score 33.60

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P12694 B4DP47 E7EW46 Q16034 Q16472
Symbols MSU
MSUD1
OVD1A
BCKDE1A

Gene

PANTHER Protein Class (2)

PDB

1DTW   1OLS   1OLU   1OLX   1U5B   1V11   1V16   1V1M   1V1R   1WCI   1X7W   1X7X   1X7Y   1X7Z   1X80   2BEU   2BEV   2BEW   2BFB   2BFC   2BFD   2BFE   2BFF   2J9F  

 GWAS Trait (1)

Gene RIF (18)

PMID Text
26453840 Five novel mutations in BCKDHA were identified in MSUD patients.
24603436 Targeted parallel sequencing revealed novel mutations in the gene BCKDHA for prenatal testing of maple syrup urine disease.
24268812 The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved.
23729548 Data from infant/her heterozygous parents (first cousins) suggest homozygous mutation (S144I) in BCKDHA can result in maple syrup urine disease (IA); molecular modeling suggests this missense mutation in exon 4 affects protein stability. [CASE STUDY]
22956686 autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome.
22593002 BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population.
21844576 identified 4 novel mutations of the BCKDHA gene in 3 Korean newborns; to the best of knowledge, this is the first report of maple syrup urine disease confirmed by genetic analysis in Korea
20877624 Observational study of gene-disease association. (HuGE Navigator)
20431954 Case Report: functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene in maple syrup urine disease.
20136525 Observational study of genetic testing. (HuGE Navigator)
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AA Sequence

MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQP      1 - 70
NVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGT     71 - 140
HVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLA    141 - 210
TQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYR    211 - 280
GDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDE    281 - 350
VNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL    351 - 420
RKQQESLARHLQTYGEHYPLDHFDK                                                 421 - 445
//

Text Mined References (52)

PMID Year Title
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.
24603436 2014 Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.
24268812 2014 Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan.
23729548 2013 Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
22956686 2012 Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
22593002 2012 Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1? and E1?.
21844576 2011 Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20431954 2010 Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
More...