CST9

Chr 20

cystatin 9

Also known as: CLM, CTES7A

NCBI Gene: 128822 ENSG00000173335 UniProt: Q5W186 OMIM: 616543

CST9 encodes a secreted cysteine protease inhibitor that may be involved in testis development, hematopoietic differentiation, and immune responses against bacterial pathogens. The gene shows low constraint against loss-of-function variants (pLI = 0.001, LOEUF = 1.89), and no definitive human disease associations have been established from mutations in this gene.

OMIM ResearchSummary from RefSeq, UniProt

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 a secreted protein that may play a role in hematopoietic differentiation or inflammation. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.89

LOEUF

Mechanism· predicted