Bmpr1a - bone morphogenetic protein receptor, type 1A Gene

中文名称：骨形态发生蛋白受体，1A 型

种属: Mus musculus

同用名: ALK3; Bmpr; SKR5; ALK-3; BMPR-1A; BMPR-IA; 1110037I22Rik

关于 Bmpr1a

功能概要

该基因编码的蛋白可启动 BMP 绑定活动； BMP受体活性；和酶激活剂活性。参与多个过程，包括循环系统发育；心脏形态发生的纤维环；和细胞群增殖的正调节。作用于多个过程的上游或内部，包括动物器官发育；肢体形态发生；和区域化。位于细胞表面。以多种结构表达，包括消化系统；中枢神经系统;泌尿生殖系统；肢;和感觉器官。用于研究Ebstein异常；沃尔夫-帕金森-怀特综合症；染色体 10q23 缺失综合征；幼年息肉病综合征;和骨关节炎。该基因的人类直系同源基因与遗传性混合性息肉病综合征 2 相关；肠道疾病；和幼年息肉病综合征。与人类 BMPR1A（1A 型骨形态发生蛋白受体）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables BMP binding activity; BMP Receptor activity; and Enzyme activator activity. Involved in several processes, including circulatory system development; fibrous ring of heart morphogenesis; and positive regulation of cell population proliferation. Acts upstream of or within several processes, including animal organ development; limb morphogenesis; and regionalization. Located in cell surface. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Used to study Ebstein anomaly; Wolff-Parkinson-White syndrome; chromosome 10q23 deletion syndrome; juvenile polyposis syndrome; and osteoarthritis. Human ortholog(s) of this gene implicated in hereditary mixed polyposis syndrome 2; intestinal disease; and juvenile polyposis syndrome. Orthologous to human BMPR1A (bone morphogenetic protein receptor type 1A). [provided by Alliance of Genome Resources, Apr 2022]