MS4A1
Description
The MS4A1 (membrane spanning 4-domains A1) is a protein-coding gene located on chromosome 11.
The MS4A1 gene, located on human chromosome 11q12, encodes for CD20, a cell-surface molecule found on B-lymphocytes. This 33-37 kDa non-glycosylated protein is expressed on B-cells from the pre-B phase until they become terminally differentiated plasma cells. CD20 is a therapeutic target for B-cell malignancies and autoimmune diseases. The gene is 16 kbp long and consists of 8 exons, with at least 3 mRNA transcripts produced through alternative splicing. All transcripts code for the same full-length CD20 protein. While variants 1 and 2 have limited translation due to inhibitory features in their 5' untranslated regions, variant 3 is efficiently translated, potentially impacting CD20 levels in normal and malignant B cells. The MS4A1 gene belongs to the membrane-spanning 4A gene family.
MS4A1 is a B-lymphocyte-specific membrane protein that plays a role in regulating cellular calcium influx, which is crucial for B-lymphocyte development, differentiation, and activation. It functions as a component of store-operated calcium (SOC) channels, promoting calcium influx upon activation by the B-cell receptor (BCR).
MS4A1 is also known as B1, Bp35, CD20, CVID5, FMC7, LEU-16, S7.
