GABPB2
Description
The GABPB2 (GA binding protein transcription factor subunit beta 2) is a protein-coding gene located on chromosome 1.
GA-binding protein subunit beta-1 is a protein encoded by the GABPB1 gene in humans. This protein forms a tetrameric complex with the alpha subunit, stimulating transcription of target genes. It may play a role in activating cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mice has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene.
May function as a transcription factor capable of interacting with purine-rich repeats (GA repeats).
GABPB2 is also known as GABPB-2.
Associated Diseases
- skin cancer
- schizophrenia
- classic Hodgkin lymphoma
- hyper-IgM syndrome type 3
- hyper-IgM syndrome type 2
- hyper-IgM syndrome type 5
- isolated agammaglobulinemia
- BENTA disease
- immune deficiency, familial variable
