GABPB2

GABPB2 (GA Binding Protein Transcription Factor Subunit Beta 2) is a protein that in humans is encoded by the GABPB2 gene. This protein is a subunit of the GA-binding protein transcription factor which is involved in the regulation of a wide spectrum of gene expression and cellular functions.

Function

GABPB2 is a member of the E26 transformation-specific (ETS) family of transcription factors. These proteins are characterized by an ETS DNA-binding domain and play crucial roles in various biological processes, including cell proliferation, differentiation, apoptosis, and development.

The GABPB2 protein is a subunit of the GA-binding protein transcription factor, which binds to the GA-responsive element of various genes and activates their transcription. The GA-binding protein is composed of two subunits: an alpha subunit (GABPA) and a beta subunit (GABPB). The GABPB subunit exists in two isoforms, GABPB1 and GABPB2, which are encoded by separate genes.

Clinical significance

Mutations in the GABPB2 gene have been associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorder. Studies have shown that these mutations can disrupt the function of the GA-binding protein, leading to abnormal gene expression and impaired neural development.

See also

• GABPA
• GABPB1
• ETS family
• Transcription factor
• Gene expression
• Cellular functions