The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes. Association with CLDN1 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell.
Required for normal cell surface expression of CD19 and for normal adaptive immune responses (PubMed:20237408, PubMed:27881302). Required for normal female fertility and normal sperm-egg fusion. May be involved in the acrosome reaction (By similarity). Can inhibit the proliferation of a subset of cultured lymphoma cell lines (PubMed:1695320, PubMed:2398277).
Covered on Genetics Home Reference:
From NCBI Gene:
- Common variable immunodeficiency 6
Immunodeficiency, common variable, 6 (CVID6): A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. [MIM:613496]