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Activin A Receptor, Type Ii-like Kinase 1 OKDB#: 2387
 Symbols: ACVRL1 Species: human
 Synonyms: ACVRLK1|ACTIVIN RECEPTOR-LIKE KINASE 1, ALK1  Locus: 12q11-q14 in Homo sapiens
HPMR


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General Comment NCBI Summary: Activin A receptor, type II-like 1 (also called activin receptor-like kinase 1) is 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 protein (sometimes termed ALK1) shares similar domain structures with 3 other closely related ALK proteins (ALK2, ALK3, and ALK4) that together form a subfamily of receptor serine/threonine kinases. ACVRL1 is most highly expressed in human placenta and lung. ACVRL1 deficiency causes hemorrhagic telangiectasia type 2 (HHT2; MIM 600376) also known as Rendu-Osler-Weber syndrome 2 (ORW2).
General function Receptor
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment This gene was found through a mouse ovarian follicle microarray.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Feb. 12, 2004, 11:46 a.m. by: xin   email:
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last update: Feb. 27, 2004, 1:10 p.m. by: system    email:



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