A currative database for lysosomal storage disorder
It is a genetic bone disorder. Cathepsin K which is within the osteoclasts plays an important role in bone matrix resorption. Therefore mutations or defect in the function of Cathepsin K results in the osteosclerosis of the whole skeleton. CTSK gene located at 1q21. Mutations in this gene causes impairment of osteoclasts to degrade collagen .
Reference :
Xue Y, Cai T, Shi S, et al (2011) Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. Orphanet J Rare Dis 6:20. https://doi.org/10.1186/1750-1172-6-20.
| Mutation | PANTHER | PhD-SNP | SNPs&GO | SIFT | SNAP | Meta-SNP |
| G79E | Disease | Disease | Disease | Disease | Disease | Disease |
| R122P | Disease | Disease | Disease | Disease | Disease | Disease |
| G146R | Disease | Disease | Disease | Disease | Disease | Disease |
| A277V | Neutral | Disease | Disease | Disease | Disease | Disease |
| Y283C | Disease | Disease | Disease | Disease | Disease | Disease |
| L309P | Disease | Disease | Disease | Disease | Disease | Disease |