CD53 - CD53 molecule Gene

中文名称：CD53 分子

种属: Homo sapiens

同用名: MOX44; TSPAN25

关于 CD53

功能概要

由该基因编码的蛋白质是跨膜 4 超家族的成员，也称为四跨膜蛋白家族。这些成员中的大多数是细胞表面蛋白，其特征在于存在四个疏水结构域。这些蛋白质介导在细胞发育、活化、生长和运动的调节中起作用的信号转导事件。这种编码的蛋白质是已知与整合素复合的细胞表面糖蛋白。它有助于 T 细胞和自然杀伤细胞中 CD2 生成信号的转导，并被认为在生长调节中发挥作用。该基因的家族性缺陷与免疫缺陷有关，这种免疫缺陷与由细菌、真菌和病毒引起的复发性传染病有关。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 3 月]

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. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]