CD53
Description
The CD53 (CD53 molecule) is a protein-coding gene located on chromosome 1.
CD53 is a protein encoded by the CD53 gene in humans. It belongs to the transmembrane 4 superfamily, also known as the tetraspanin family, characterized by four hydrophobic domains. These proteins mediate signal transduction events involved in cell development, activation, growth, and motility. CD53 is a cell surface glycoprotein that interacts with integrins, contributing to the transduction of signals from CD2 in T cells and natural killer cells. It is suggested to play a role in growth regulation. Familial deficiency of CD53 is associated with immunodeficiency characterized by recurrent infections from bacteria, fungi, and viruses. Multiple transcript variants, all encoding the same protein, result from alternative splicing.
CD53 is essential for efficient muscle fiber formation during regeneration, specifically in the cell fusion process. It may also play a role in regulating growth within hematopoietic cells.
CD53 is also known as MOX44, TSPAN25.
Associated Diseases
- schizophrenia
- immune deficiency, familial variable
- hyper-IgM syndrome type 3
- hyper-IgM syndrome type 2
- hyper-IgM syndrome type 5
- immunodeficiency, common variable, 14
- tuberculosis
- overnutrition
