BMPR1B |
Bone morphogenetic protein receptor, type IB |
Activate SMAD transcriptional regulators |
GDF5 |
Brachydactyly, type A2; chrondrodysplasia |
TGF-β pathway; and BMP signaling |
43 |
CFTR |
Cystic fibrosis transmembrane conductance regulator |
Transport of chloride ions, etc. |
SLC26A3 and SLC26A2, etc. |
Cystic fibrosis, lumbar disk herniation |
Transport of small molecules |
24 |
GDF5 |
Growth differentiation factor 5 (i.e., CDMP-1) |
Bone and cartilage formation |
BMPR1B |
Type C brachydactyly, also spondylolysis and spondylolisthesis |
TGF-β pathway |
20, 52
|
SLC26A2 |
Solute carrier family 26 (anion exchanger), member 2 |
Endochondral bone formation |
CFTR (predicted by homolog SLC26A3) |
Spondylolysis and spondylolisthesis, also platyspondylia, epiphyseal dysplasia, etc. |
Anion exchanger |
This study; also 31
|