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Symbol CST3 contributors: mct - updated : 21-12-2011
HGNC name cystatin C (amyloid angiopathy and cerebral hemorrhage)
HGNC id 2475
corresponding disease(s) HCHWAI
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in Amyotrophic lateral sclerosis (ALS) patients were significantly elevated in plasma and reduced in cerebrospinal fluid (CSF)compared to healthy controls, but did not differ significantly from neurologic disease control
  • to age related exudative macular degeneration late-onset Alzheimer disease (>75 years)
  • to frontotemporal lobar degeneration (FTLD)
  • Variant & Polymorphism other
  • CST A allele risk factor for early-onset Alzheimers disease,B/B variant (ARMD)
  • polymorphisms (-82G/C and -78T/G)significantly associated with coronary artery disease
  • over-representation of the CST3 haplotype B and of AB/BB genotypes, in FTLD patients negative for the presence of GRN mutations
  • Candidate gene
  • correlations between CSF cystatin C levels to both ALS disease progression and patient survival
  • S-cystatin C seems a useful marker for kidney function in the elderly
  • maternal serum cystatin C concentrations in early pregnancy may be of value in identifying women at high risk of developing preeclampsia
  • low levels of serum cystatin C precede clinically manifest Alzheimer disease (AD) in elderly men free of dementia at baseline and may be a marker of future risk of AD
  • may be an independent marker of atherosclerotic disease apart from its relation to kidney function
  • Therapy target