Entity Details

Primary name BCAT2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15382
EntryNameBCAT2_HUMAN
FullNameBranched-chain-amino-acid aminotransferase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length392
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesBCAT2

GO terms

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GOName
GO:0004084 branched-chain-amino-acid transaminase activity
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0009082 branched-chain amino acid biosynthetic process
GO:0009083 branched-chain amino acid catabolic process
GO:0009098 leucine biosynthetic process
GO:0009099 valine biosynthetic process
GO:0050048 L-leucine:2-oxoglutarate aminotransferase activity
GO:0052654 L-leucine transaminase activity
GO:0052655 L-valine transaminase activity
GO:0052656 L-isoleucine transaminase activity

Subcellular Location

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Subcellular Location
Cytoplasm
Mitochondrion

Domains

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DomainNameCategoryType
IPR001544 Aminotransferase class IVFamilyFamily
IPR005786 Branched-chain amino acid aminotransferase IIFamilyFamily
IPR018300 Aminotransferase, class IV, conserved siteSiteConserved site
IPR033939 Branched-chain aminotransferaseFamilyFamily
IPR036038 Aminotransferase-like, PLP-dependent enzymesFamilyHomologous superfamily
IPR043131 Branched-chain-amino-acid aminotransferase-like, N-terminalFamilyHomologous superfamily
IPR043132 Branched-chain-amino-acid aminotransferase-like, C-terminalFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618850 OMIMHypervalinemia and hyperleucine-isoleucinemia (HVLI)An autosomal recessive metabolic disorder characterized by highly elevated plasma concentrations of valine and leucine/isoleucine. Affected individuals suffer from headache and mild memory impairment. The disease is caused by variants affecting the gene represented in this entry. A patient with hypervalinemia and hyperleucine-isoleucinemia was identified as compound heterozygote for Gln-170 (inherited from his father) and Lys-264 (inherited from his mother), both variants reduced the catalytic activity of the enzyme. After treatment with vitamin B6, a precursor of pyridoxal 5'-phosphate, a BCAT2 cofactor, the blood levels of branched chain amino acids, especially valine, were decreased and brain lesions were improved.

Drugs

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DrugNameSourceType
DB00114 Pyridoxal phosphateDrugbanksmall molecule
DB00142 Glutamic acidDrugbanksmall molecule
DB00149 LeucineDrugbanksmall molecule
DB00167 IsoleucineDrugbanksmall molecule
DB02142 Pyridoxamine-5'-PhosphateDrugbanksmall molecule
DB02635 N-[O-Phosphono-Pyridoxyl]-IsoleucineDrugbanksmall molecule
DB04074 alpha-KetoisovalerateDrugbanksmall molecule