Bmpr1b - bone morphogenetic protein receptor type 1B Gene

中文名称：骨形态发生蛋白受体 1B 型

种属: Rattus norvegicus

同用名: CFK-43a

关于 Bmpr1b

功能概要

预计该基因编码的蛋白可启动多种功能，包括 ATP 绑定活动；酶活化剂活性；和跨膜受体蛋白丝氨酸/苏氨酸激酶活性。预计参与多个过程，包括卵巢卵丘扩张；骨矿化的正向调节；和成骨细胞分化的正调控。预计在多个过程的上游或内部起作用，包括软骨发育；通过死亡域受体正向调节外在凋亡信号通路；和视网膜神经节细胞轴突导向。位于树突和神经细胞体中。该基因的人类直系同源物与短指型 A1D 相关； A2型短指；和骨软骨发育不良。与人类 BMPR1B（1B 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]

Predicted to enable several functions, including ATP binding activity; Enzyme activator activity; and transmembrane receptor protein serine/threonine kinase activity. Predicted to be involved in several processes, including ovarian cumulus expansion; positive regulation of bone mineralization; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within several processes, including cartilage development; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors; and retinal ganglion cell axon guidance. Located in dendrite and neuronal cell body. Human ortholog(s) of this gene implicated in brachydactyly type A1D; brachydactyly type A2; and osteochondrodysplasia. Orthologous to human BMPR1B (bone morphogenetic protein receptor type 1B). [provided by Alliance of Genome Resources, Apr 2022]