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sax - saxophone

Enables BMP binding activity; BMP receptor activity; and I-SMAD binding activity. Involved in several processes, including BMP signaling pathway; germ cell development; and regionalization. Located in plasma membrane. Part of BMP receptor complex. Is expressed in several structures, including adult brain; adult pars intercerebralis; dorsal pharyngeal muscle cell; embryonic/larval midgut primordium; and gut section. Used to study fibrodysplasia ossificans progressiva. Human ortholog(s) of this gene implicated in fibrodysplasia ossificans progressiva; glaucoma (multiple); hereditary hemorrhagic telangiectasia; and pulmonary hypertension. Orthologous to human ACVRL1 (activin A receptor like type 1) and ACVR1 (activin A receptor type 1). [provided by Alliance of Genome Resources, Nov 2024]

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Species Gene Architecture aa