Symbol Name ID |
Bckdhb
branched chain ketoacid dehydrogenase E1, beta polypeptide MGI:88137 |
Darker colors indicate more annotations |
Human Phenotypes | Increased serum pyruvate |
Hyperisoleucinemia |
Hyperleucinemia |
Elevated circulating branched chain amino acid concentration |
Elevated circulating L-alloisoleucine concentration |
Increased CSF isoleucine concentration |
Increased CSF leucine concentration |
Increased CSF valine concentration |
Elevated circulating hepatic transaminase concentration |
Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts |
Hypoglycemia |
Ketoacidosis |
Lactic acidosis |
Metabolic acidosis |
Cerebral edema |
Positive 2,4-dinitrophenylhydrazine urine test |
Increased level of hippuric acid in urine |
Ketosis |
Disease(s) Associated with BCKDHB | ||||||||||||||||||
maple syrup urine disease |
Mouse Phenotypes | decreased circulating alanine level |
abnormal circulating amino acid level |
increased circulating leucine level |
increased circulating valine level |
abnormal enzyme/coenzyme activity |
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Availability | Mouse Genotype | |||||
Bckdhbem1(IMPC)J/Bckdhbem1(IMPC)J |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 06/12/2024 MGI 6.13 |
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