Sample Type for Cell Culture Supernates, Cell lysates, Tissue Lysates, Serum, EDTA Plasma, Heparin Plasma

CST3

Cystatin-C

CST3 ;
Cystatin-C ;
Cystatin-3 ;
Gamma-trace ;
Neuroendocrine basic polypeptide ;
Post-gamma-globulin

disease:Defects in CST3 are the cause of amyloidosis type 6 (AMYL6) [MIM:105150]; also known as hereditary cerebral hemorrhage with amyloidosis (HCHWA), cerebral amyloid angiopathy (CAA) or cerebroarterial amyloidosis Icelandic type. AMYL6 is a hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates 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 cerebral amyloid angiopathy, cerebral hemorrage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.,disease:Genetic variations in CST3 are associated with age-related macular degeneration type 11 (ARMD11) [MIM:611953]. ARMD is 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.,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.,miscellaneous:Potential cerebrospinal fluid marker for the diagnosis of Creutzfeldt-Jakob disease.,similarity:Belongs to the cystatin family.,subunit:Homodimer.,tissue specificity:Found 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.,

defense response, regulation of catabolic process, negative regulation of catabolic process, negative regulation of peptidase activity, negative regulation of macromolecule metabolic process, regulation of histolysis, negative regulation of histolysis, regulation of collagen catabolic process, negative regulation of collagen catabolic process,regulation of collagen metabolic process, negative regulation of collagen metabolic process, regulation of extracellular matrix disassembly, negative regulation of extracellular matrix disassembly, extracellular matrix organization,regulation of cellular catabolic process, negative regulation of cellular catabolic process, regulation of tissue remodeling, negative regulation of tissue remodeling, extracellular structure organization, negative regulation of catalytic activity, fibril organization, negative regulation of molecular function, regulation of multicellular organismal metabolic process, negative regulation of multicellular organismal metabolic process, negative regulation of cellular component organization, negative regulation of multicellular organismal process, regulation of hydrolase activity,negative regulation of hydrolase activity, regulation of peptidase activity, regulation of elastin catabolic process,negative regulation of elastin catabolic process, regulation of blood vessel remodeling, negative regulation of blood vessel remodeling,

Secreted .

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.