BMP7 Chromosome 20
Bone morphogenetic protein 7
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What This Gene Does
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. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Bone morphogenetic proteins
Locus Type
gene with protein product
Location
20q13.31
Ensembl
ENSG00000101144
Associated Conditions (4)
Congenital heart defects
multiple types
4
Ventricular septal defect 1
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1476787716 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 4 |
| RS2146036001 | Health Risk | Pathogenic | Ventricular septal defect 1, Ventricular septal defect 1 |