CSTA Chromosome 3
Cystatin A
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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 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]
Gene Info
Gene Group
Cystatins, type 1
Locus Type
gene with protein product
Location
3q21.1
Ensembl
ENSG00000121552
Associated Conditions (1)
Peeling skin syndrome 4
Key Variants
RS1321015847
Likely pathogenic
Health Risk
RS149474339
Likely pathogenic
Peeling skin syndrome 4, Peeling skin syndrome 4
Health Risk
RS387906689
Pathogenic
Peeling skin syndrome 4, Peeling skin syndrome 4
Health Risk
RS398122804
Pathogenic
Peeling skin syndrome 4, Peeling skin syndrome 4
Health Risk
RS747711488
Pathogenic
Peeling skin syndrome 4, Peeling skin syndrome 4
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1321015847 | Health Risk | Likely pathogenic | — |
| RS149474339 | Health Risk | Likely pathogenic | Peeling skin syndrome 4, Peeling skin syndrome 4 |
| RS387906689 | Health Risk | Pathogenic | Peeling skin syndrome 4, Peeling skin syndrome 4 |
| RS398122804 | Health Risk | Pathogenic | Peeling skin syndrome 4, Peeling skin syndrome 4 |
| RS747711488 | Health Risk | Pathogenic | Peeling skin syndrome 4, Peeling skin syndrome 4 |