CSTL1


Description

The CSTL1 (cystatin like 1) is a protein-coding gene located on chromosome 20.

Cystatin-like 1 (CSTL1) is a protein encoded by the CSTL1 gene in humans. It belongs to the cystatin superfamily, which includes proteins with multiple cystatin-like sequences. Some members of this family are active cysteine protease inhibitors, while others may have lost or never acquired this inhibitory function. The cystatin superfamily is categorized into three inhibitory families: type 1 cystatins (stefins), type 2 cystatins, and kininogens. Type 2 cystatins, like CSTL1, are cysteine proteinase inhibitors found in various human fluids and secretions. The majority of type 2 cystatin genes and pseudogenes are located on chromosome 20, within the cystatin locus. CSTL1 is specifically located at the telomeric end of this locus. While CSTL1 encodes a type 2 cystatin-like protein, its precise function has yet to be determined.

CSTL1 is also known as CTES1, RCET11, dJ322G13.4.

Associated Diseases



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