GENETIC ENCYCLOPEDIA
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gene: BMP10

id27302
symbolBMP10
organismHomo sapiens
full namebone morphogenetic protein 10
summaryThis gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016]
variant-disease

GRCh37/hg19 2p14-13.3(chr2:67491378-69679404) AND not provided

GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1 AND See cases

GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 AND See cases

NC_000002.11:g.63671346_85698002dup AND not provided

GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 AND See cases

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