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Gene Symbol ACVR1
Synonyms ACTRI | ACVR1A | ACVRLK2 | ALK2 | FOP | SKR1 | TSRI
Gene Description ACVR1, activin A receptor type 1, is a bone morphogenic protein (BMP) type 1 receptor involved in numerous signaling pathways including BMP signaling, and plays a critical role in chondrogenesis, osteogenesis, and angiogenesis (PMID: 28780023, PMID: 28232325). ACVR1 mutations are associated with diffuse intrinsic pontine gliomas (PMID: 24705251).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
90 2 2q24.1 NM_001111067 Oncogene (PMID: 30606230)
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