GeneID: 88

Description:
This gene encodes a type I cell surface receptor for the transforming growth factor β (TGFβ) family of proteins. TGFβ signalling occus via formation of heteromeric complexes of type I and type II receptors that both contain intracellular serine/threonine kinase domains. There are seven type I receptors designated as activin receptor-like kinase (ALK) 1 to 7. These contain an extracellular binding domain, a transmembrane domain, a glycine- and serine-rich (GS) domain that serves as the site of activation by type II receptors, and a kinase domain that activates downstream signalling mediators. The encoded protein, ALK-1, interacts with four ligands, namely, TGFβ1, TGFβ3, bone morphogenetic protein 9 (BMP9) and BMP10, in a complex with the corresponding type II receptors. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. Polymorphisms in this gene associated with pulmonary hypertension in sickle cell patients.

Synonyms: ALK1 , HHT , HHT2

Comments:
N/A

Number of entries/variants: 2

1. Ashley-Koch AE, Elliott L, Kail ME, De Castro LM, Jonassaint J, Jackson TL, Price J, Ataga KI, Levesque MC, Weinberg JB, Orringer EP, Collins A, Vance JM, Telen MJ, Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease., Blood , 111(12), 5721-6, 2008 PubMed
2. Townson SA, Martinez-Hackert E, Greppi C, Lowden P, Sako D, Liu J, Ucran JA, Liharska K, Underwood KW, Seehra J, Kumar R, Grinberg AV, Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex., J. Biol. Chem. , 287(33), 27313-25, 2012 PubMed