BCAT2 Chromosome 19
Branched chain amino acid transaminase 2
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What This Gene Does
This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Minor histocompatibility antigens|Branched chain amino acid transaminase family"
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000105552
Associated Conditions (1)
Hypervalinemia and hyperleucine-isoleucinemia
Key Variants
RS145231743
Conflicting classifications of pathogenicity
Health Risk
RS150646107
Conflicting classifications of pathogenicity
Health Risk
RS750400501
Conflicting classifications of pathogenicity
Health Risk
RS2514085671
Likely pathogenic
Health Risk
RS749866079
Pathogenic
Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia
Health Risk
RS753659619
Pathogenic
Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia
Health Risk
RS767653663
Pathogenic
Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia
Health Risk
RS755640785
Pathogenic/Likely pathogenic
Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145231743 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150646107 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750400501 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2514085671 | Health Risk | Likely pathogenic | — |
| RS749866079 | Health Risk | Pathogenic | Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia |
| RS753659619 | Health Risk | Pathogenic | Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia |
| RS767653663 | Health Risk | Pathogenic | Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia |
| RS755640785 | Health Risk | Pathogenic/Likely pathogenic | Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia |