GSDMB

Description

The GSDMB (gasdermin B) is a protein-coding gene located on chromosome 17.

The GSDMB gene encodes a protein called Gasdermin B, which belongs to the gasdermin-domain containing protein family. Other proteins in this family are involved in apoptosis (programmed cell death) in epithelial cells and are linked to cancer. Multiple variations of the GSDMB gene have been identified, which encode different isoforms. Some variations are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to produce functional proteins.

Gasdermin-B, also known as Gasdermin-like protein, acts as a downstream mediator of granzyme-mediated cell death (PubMed:32299851). This protein is a precursor to a pore-forming protein, and upon cleavage, its N-terminal portion binds to membranes and forms pores, triggering pyroptosis (PubMed:32299851). Gasdermin-B also acts as a regulator of epithelial cell repair independently of programmed cell death. It translocates to the plasma membrane and promotes epithelial maintenance and repair by regulating PTK2/FAK-mediated phosphorylation of PDGFA (PubMed:35021065).

GSDMB is also known as GSDMB-1, GSDML, PP4052, PRO2521.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing