CST3
Function
As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.
Involvement in disease
Cerebral amyloid angiopathy, CST3-related
CAA-CST3
An autosomal dominant disorder characterized by cystatin C amyloid accumulation in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in intracranial hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.
None
The disease is caused by variants affecting the gene represented in this entry.
Macular degeneration, age-related, 11
ARMD11
A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Post-translational modifications
The Thr-25 variant is O-glycosylated with a core 1 or possibly core 8 glycan. The signal peptide of the O-glycosylated Thr-25 variant is cleaved between Ala-20 and Val-21.
Sequence Similarities
Belongs to the cystatin family.
Tissue Specificity
Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in various body fluids, such as the cerebrospinal fluid and plasma. Expressed in highest levels in the epididymis, vas deferens, brain, thymus, and ovary and the lowest in the submandibular gland.
Cellular localization
- Secreted
Alternative names
Cystatin-C, Cystatin-3, Gamma-trace, Neuroendocrine basic polypeptide, Post-gamma-globulin, CST3