BCAT2 branched chain amino acid transaminase 2
Gene ID: 587, updated on 19-Sep-2024Gene type: protein coding
Also known as: BCAM; BCT2; HVLI; PP18; BCATM
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- Go to complete Gene record for BCAT2
- Go to Variation Viewer for BCAT2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hypervalinemia and hyperleucine-isoleucinemia | See labs |
Genomic context
- Location:
- 19q13.33
- Sequence:
- Chromosome: 19; NC_000019.10 (48795064..48811029, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BCAT2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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