Aliases for CSTA Gene
External Ids for CSTA Gene
Previous HGNC Symbols for CSTA Gene
Previous GeneCards Identifiers for CSTA Gene
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008]
GeneCards Summary for CSTA Gene
CSTA (Cystatin A) is a Protein Coding gene. Diseases associated with CSTA include Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa Of Siemens-Like and Exfoliative Ichthyosis. Among its related pathways are Developmental Biology. GO annotations related to this gene include structural molecule activity and protein binding, bridging. An important paralog of this gene is CSTB.
UniProtKB/Swiss-Prot for CSTA Gene
This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis.