Gene: CTSS

Alternate names for this Gene: -

Gene Summary: The preproprotein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that participates in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The mature protein cleaves the invariant chain of MHC class II molecules in endolysosomal compartments and enables the formation of antigen-MHC class II complexes and the proper display of extracellular antigenic peptides by MHC-II. The mature protein also functions as an elastase over a broad pH range. When secreted from cells, this protein can remodel components of the extracellular matrix such as elastin, collagen, and fibronectin. This gene is implicated in the pathology of many inflammatory and autoimmune diseases and, given its elastase activity, plays a significant role in some pulmonary diseases. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.3

Description of this Gene: cathepsin S

Type of Gene: protein-coding

rs41271951 in CTSS gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs41271951 in CTSS gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs41271951 in CTSS gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs41271951 in CTSS gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.