SLAMF8

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Description

The SLAMF8 (SLAM family member 8) is a protein-coding gene located on chromosome 1.

SLAM family member 8 is a protein encoded by the SLAMF8 gene in humans. It belongs to the CD2 family of cell surface proteins involved in lymphocyte activation, characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies on a similar protein in mice suggest a potential role in B cell lineage commitment. The gene is located on chromosome 1 within a region containing numerous CD2 genes.

SLAMF8 is also known as BLAME, CD353, SBBI42.

Associated Diseases

• isolated agammaglobulinemia
• recurrent Neisseria infections due to factor D deficiency
• hyper-IgM syndrome type 2
• immunodeficiency 28
• immune deficiency, familial variable
• common variable immunodeficiency
• mannose-binding lectin deficiency
• type II complement component 8 deficiency
• immunodeficiency, common variable, 4
• hyper-IgM syndrome type 5
• hyper-IgM syndrome type 3
• immunodeficiency due to ficolin3 deficiency