AlphaFold predicted structure
CTSK · P43235
Mean pLDDT
94.9/ 100
Very high
329 residues
Confidence breakdown
- Very high(≥ 90)91%
- Confident(70–90)3%
- Low(50–70)6%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
CTSK
Chr 1q21.3cathepsin K
- Aliases:
- PKND
- MANE:
- ENST00000271651.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalLysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomalOsteopetrosis
BIALLELIC, autosomal or pseudoautosomalRare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
pycnodysostosis
0.83hereditary disease
0.45osteoporosis
0.40neurodegenerative disease
0.37skeletal dysplasia
0.36Macrocephaly
0.36Nail dysplasia
0.36Short stature
0.36Increased susceptibility to fractures
0.36Short phalanx of finger
0.33
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cathepsin K
Thiol protease involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation. Involved in the release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen (PubMed:11082042)