ARHGEF3 - Rho guanine nucleotide exchange factor 3 Gene

中文名称：Rho 鸟嘌呤核苷酸交换因子 3

种属: Homo sapiens

同用名: GEF3; STA3; XPLN

关于 ARHGEF3

功能概要

Rho 样 GTP 酶参与多种细胞过程，它们通过结合 GTP 被激活，并通过其内在 GTP 酶活性将 GTP 转化为 GDP 而失活。鸟嘌呤核苷酸交换因子 (GEF) 通过催化释放结合的 GDP 来加速 Rho GTP 酶的 GTP 酶活性。该基因编码鸟嘌呤核苷酸交换因子，可特异性激活 Rho GTPase 家族的两个成员：RHOA 和 RHOB，两者均在骨细胞生物学中发挥作用。已经确定该基因的遗传变异在骨矿物质密度 (BMD) 的测定中起作用，表明该基因与绝经后骨质疏松症有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone Cell Biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]