GENETIC ENCYCLOPEDIA
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gene: BMP7

id655
symbolBMP7
organismHomo sapiens
full namebone morphogenetic protein 7
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 each subunit of the disulfide-linked homodimer, which plays a role in bone, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing in human patients. [provided by RefSeq, Jul 2016]
variant-disease

NM_001719.3(BMP7):c.334A>G (p.Ser112Gly) AND Congenital anomalies of kidney and urinary tract

GRCh37/hg19 20q13.31(chr20:55790147-55794656)x0 AND not provided

NM_001719.3(BMP7):c.900C>G (p.Ser300Arg) AND Congenital anomalies of kidney and urinary tract

NM_001719.3(BMP7):c.611+136G>A AND not provided

NM_001719.3(BMP7):c.457del (p.His153fs) AND Inborn genetic diseases

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