CST3 cystatin C
Gene ID: 1471, updated on 31-Mar-2024Gene type: protein coding
Also known as: ARMD11; HEL-S-2
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- Go to complete Gene record for CST3
- Go to Variation Viewer for CST3 variants
Summary
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. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. GeneReviews: Not available | |
Age related macular degeneration 11 | See labs |
Hereditary cerebral amyloid angiopathy, Icelandic type | See labs |
New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available | |
Polymorphism of the cystatin C gene in patients with acute coronary syndromes: Results from the PLATelet inhibition and patient Outcomes study. GeneReviews: Not available |
Genomic context
- Location:
- 20p11.21
- Sequence:
- Chromosome: 20; NC_000020.11 (23626706..23637955, complement)
- Total number of exons:
- 4
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CST3 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CST3 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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