ACVRL1 wt Allele

Human ACVRL1 wild-type allele is located within 12q11-q14 and is approximately 14 kb in length. This allele, which encodes serine/threonine-protein kinase receptor R3 protein, is involved in receptor signal transduction. ACVRL1 deficiency causes hemorrhagic telangiectasia type 2, which is also also known as Rendu-Osler-Weber syndrome 2. (NCI Thesaurus)

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ACVRL1 Gene

This gene is involved in the mediation of cell-surface receptor interactions for the TGF-beta superfamily of ligands.

ACVR2B wt Allele

Human ACVR2B wild-type allele is located within 3p22 and is approximately 29 kb in length. This allele, which encodes activin receptor type…

ACVR2B Gene

This gene plays a role in the transforming growth factor-beta signal transduction pathway and is essential for ligand binding and kinase…

ACVR2A wt Allele

Human ACVR2A wild-type allele is located in the vicinity of 2q22.3 and is approximately 83 kb in length. This allele, which encodes…

ACVR2A Gene

This gene plays a role in the transforming growth factor-beta signal transduction pathway through constitutive kinase activity.

ACVR1C wt Allele

Human ACVR1C wild-type allele is located in the vicinity of 2q24.1 and is approximately 102 kb in length. This allele, which encodes…