CST6 Chromosome 11
Cystatin E/M
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What This Gene Does
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 the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cystatins, type 2
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000175315
Associated Conditions (2)
Ectodermal dysplasia 15
hypohidrotic/hair type
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1590674994 | Health Risk | Pathogenic | Ectodermal dysplasia 15, hypohidrotic/hair type, Ectodermal dysplasia 15 |