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FLASH GENE
Symbol CST3 contributors: mct - updated : 21-12-2011
HGNC name cystatin C (amyloid angiopathy and cerebral hemorrhage)
HGNC id 2475
ASSOCIATED DISORDERS
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
Susceptibility
  • 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
    Marker
  • 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
    ANIMAL & CELL MODELS