Aliases for CTSL Gene
External Ids for CTSL Gene
Previous HGNC Symbols for CTSL Gene
Previous GeneCards Identifiers for CTSL Gene
The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
GeneCards Summary for CTSL Gene
CTSL (Cathepsin L) is a Protein Coding gene. Diseases associated with CTSL include Vulva Basal Cell Carcinoma and Gingival Overgrowth. Among its related pathways are G-protein signaling N-RAS regulation pathway and Bacterial infections in CF airways. Gene Ontology (GO) annotations related to this gene include histone binding and cysteine-type peptidase activity. An important paralog of this gene is CTSV.
UniProtKB/Swiss-Prot Summary for CTSL Gene
Important for the overall degradation of proteins in lysosomes.