Gene: BMP7

Alternate names for this Gene: OP-1

Gene Summary: This 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.31

Description of this Gene: bone morphogenetic protein 7

Type of Gene: protein-coding

rs1555815731 in BMP7 gene and Multiple congenital anomalies PMID 24429398 2014 Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

PMID 17003840 2007 Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias.

PMID 20506283 2010 Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.

rs117553902 in BMP7 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.