CST5
Description
The CST5 (cystatin D) is a protein-coding gene located on chromosome 20.
Cystatin-D is a protein encoded by the CST5 gene in humans. It belongs to the cystatin superfamily, which includes proteins with multiple cystatin-like sequences. Some of these proteins are active cysteine protease inhibitors, while others may have lost or never acquired this inhibitory activity. The type 2 cystatins, like Cystatin-D, are a class of cysteine proteinase inhibitors found in various human fluids and secretions. The CST5 gene is located within the cystatin locus on chromosome 20, which contains the majority of type 2 cystatin genes and pseudogenes. Cystatin-D is specifically found in saliva and tears and may play a protective role against proteinases present in the oral cavity.
Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B.
CST5 is also known as -.
Associated Diseases
- pacman dysplasia
- autosomal recessive osteopetrosis 6
- hip dysplasia, Beukes type
- gnathodiaphyseal dysplasia
- Eiken syndrome
- spondyloepimetaphyseal dysplasia, Missouri type
- Caffey disease
- syndactyly type 4
- metaphyseal dysplasia, Braun-Tinschert type
- rhizomelic chondrodysplasia punctata type 3
- Weismann-Netter syndrome
- mesomelic dysplasia, Savarirayan type
- Blount disease
- chondrodysplasia punctata, tibial-metacarpal type
- craniosynostosis-fibular aplasia syndrome
