| 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 | ||||
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| Cellular localization | Plasma membrane | ||||
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| Ovarian function | |||||
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| Ovarian localization | |||||
| Comment | This gene was found through a mouse ovarian follicle microarray. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Feb. 12, 2004, 11:46 a.m. | by: |
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| last update: | Feb. 27, 2004, 1:10 p.m. | by: | system email: |
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