CTSK
Gene name: cathepsin KOMIM ID: 601105
Chromosome location: 1q21.3
Mutations
| Disease/Phenotype | Pycnodysostosis |
|---|---|
| Reference transcript | NM_000396.3 |
| DNA Change | c.436G>C |
| A.A. Change | p.Gly146Arg |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Gelb BD, Shi GP, Chapman HA, Desnick RJ.Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science. 1996 Aug 30;273(5279):1236-8. |
| Disease/Phenotype | Pycnodysostosis |
|---|---|
| Reference transcript | NM_000396.3 |
| DNA Change | c.60_61dupGA |
| A.A. Change | p.I21Rfsx29 |
| Exon/Intron | exon 2 |
| Mutation Type | duplication |
| Reference | Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M.Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Hum Mutat. 2007 May;28(5):524. |