BCAT1 (Gene)

Synonyms:BCAT1, BCATC, BCT1, ECA39, ENTREZ:586, HGNC:976, MECA39, MIM:113520, NM_001178091, NM_001178092, NM_001178093, NM_001178094, NM_005504, NP_001171562, NP_001171563, NP_001171564, NP_001171565, NP_005495, PNAS121, PP18, XM_017019768, XP_016875257, XR_001748835, branched chain amino acid transaminase 1
Omim:OMIM:113520
Id:ENSG00000060982
Hgnc:HGNC:976
Entrez:586
Description:branched chain amino acid transaminase 1
This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View BCAT1's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with BCAT1.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using BCAT1.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for BCAT1.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with BCAT1.

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