Lysosomal Storage Disorder
Gene: CTSK
Lysosomal enzyme.Created: 24 Jul 2020, 6:17 a.m. | Last Modified: 24 Jul 2020, 6:17 a.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis, MIM# 265800
OMIN: Cathepsin K a member of the papain family of cysteine proteinases, plays an important role in osteoclast function
PMID: 32667742 - analysis of cells affected by granular corneal dystrophy shows reduced CTSK protein and lysosomal defects.
PMID: 25725806: 1 family with pycnodysostosis. Protein described as a lysosomal cysteine protease
PMID: 25304337 - 1 patient with pycnodysostosis, described as a lysosomal storage disorder
Summary: disease is described as a lysosomal disorder but no cell studies on lysosome function or protein studies found.
Sources: Expert listCreated: 22 Jul 2020, 6:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis 265800
Publications
Gene: ctsk has been classified as Green List (High Evidence).
Gene: ctsk has been classified as Amber List (Moderate Evidence).
Gene: ctsk has been classified as Amber List (Moderate Evidence).
gene: CTSK was added gene: CTSK was added to Storage Disorder. Sources: Expert list Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSK were set to PMID: 32667742; 25725806; 25304337 Phenotypes for gene: CTSK were set to Pycnodysostosis 265800 Review for gene: CTSK was set to AMBER