人 ACVRL1 (NM_000020) cDNA克隆

Accession: NM_000020
基因名称: ACVRL1
基因别名: HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1
基因描述: Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1512 (查看编码区序列)
翻译后氨基酸长度: 503 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform.
产品编号 产品名称 载体 规格 价格
G116168 人 ACVRL1 (NM_000020) cDNA克隆 pDONR223 2ug质粒 点击询价

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]