ACVRL1

该基因编码配体的tgf-β超家族的i型细胞表面受体。它与其他I型受体在丝氨酸-苏氨酸激酶亚结构域、位于激酶结构域之前的富含甘氨酸和丝氨酸的区域(称为GS结构域)和短的C末端尾部中具有高度的相似性。编码的蛋白质,有时被称为alk1,与其他密切相关的alk或激活素受体样激酶蛋白共享类似的结构域,这些蛋白形成了受体丝氨酸/苏氨酸激酶的一个亚家族。该基因突变与出血性毛细血管扩张2型(也称为rendu-osler-weber综合征2)有关。[由RefSeq提供,2008年7月]
This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]

别名

HHT,ALK1,HHT2,ORW2,SKR3,ALK-1,TSR-I,ACVRLK1

基因id

Chromosome:12 Start: 52300657 End: 52317145 Strand: 

药物

突变与药物

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