Homo sapiens Gene: BCKDHB | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-93562.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | BCKDHB | ||||||||||||||||||
Gene Name | branched chain keto acid dehydrogenase E1, beta polypeptide | ||||||||||||||||||
Synonyms | dJ279A18.1; E1B | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000083123 | ||||||||||||||||||
Encoded Proteins |
branched chain keto acid dehydrogenase E1, beta polypeptide
branched chain keto acid dehydrogenase E1, beta polypeptide
branched chain keto acid dehydrogenase E1, beta polypeptide
branched chain keto acid dehydrogenase E1, beta polypeptide
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein 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 transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008] Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein 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 transcript variants with different 3\' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 6:80106647-80346270 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q14.1 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Branched-chain amino acid catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
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KEGG |
Valine, leucine and isoleucine degradation pathway
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INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | Q5T2J3 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 594 | ||||||||||||||||||
UniGene | Hs.654441 | ||||||||||||||||||
RefSeq | NM_000056 NM_183050 XM_006715542 | ||||||||||||||||||
HUGO | HGNC:987 | ||||||||||||||||||
OMIM | 248611 | ||||||||||||||||||
CCDS | CCDS4994 | ||||||||||||||||||
HPRD | 02011 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AL049696 AL391595 BC034481 CH471051 | ||||||||||||||||||
GenPept | AAH34481 EAW48698 | ||||||||||||||||||
RNA Seq Atlas | 594 | ||||||||||||||||||