BMPER
Function
Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes.
Involvement in disease
Diaphanospondylodysostosis
DSD
A rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Highly expressed in lung, and brain and also in primary chondrocytes.
Cellular localization
- Secreted
Alternative names
KIAA1965, BMPER, BMP-binding endothelial regulator protein, Bone morphogenetic protein-binding endothelial cell precursor-derived regulator, Protein crossveinless-2, hCV2