Preferred Label : Cystatin Superfamily Gene;
NCIt definition : Cystatin Superfamily Genes comprise a single evolutionary superfamily that encode
protein subfamilies with functional and structural similarities that include cystatin-like
sequences: Stefins (Type 1 Cystatins), Cystatins (Type 2 Cystatins), and Kininogens.
Some members are active cysteine protease inhibitors; others have lost or never acquired
inhibitory activity. Cystatins are intracellular or extracellular, tight, reversible,
competitive inhibitors of lysosomal cysteine proteinases, such as Cathepsins B, L,
H, and S, that appear to provide a protective function. Type 1 Cystatins lack disulfide
bridges. Type 2 Cystatins are secreted and have 2 intrachain disulfide bonds. Kininogens
contain 3 cystatin-like domains, each with 2 disulfide bonds. (NCI);
Origin ID : C20726;
UMLS CUI : C1333186;
Automatic exact mappings (from CISMeF team)
- Semantic type(s)
- gene_found_in_organism
- gene_plays_role_in_process
