Cystatin C
Das Translationsprodukt des CST3-Gens ist das Cystatin C, dem möglicherweise eine bedeutung bei der Hemmung der Cystein-Proteasen zukommt. Eine Mutation konnte mit dem isländischen Typ der zerebralen Amyliodose assoziert werden. Die Vererbung ist autosomal dominant.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Barrett AJ et al. (1984) The place of human gamma-trace (cystatin C) amongst the cysteine proteinase inhibitors.
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2. |
Irani DN et al. (2006) Cleavage of cystatin C in the cerebrospinal fluid of patients with multiple sclerosis.
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3. |
Balbín M et al. (1991) SstII polymorphic sites in the promoter region of the human cystatin C gene.
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4. |
Hansson SF et al. (2007) Cystatin C in cerebrospinal fluid and multiple sclerosis.
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5. |
Radde R et al. (2006) Abeta42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology.
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6. |
Del Boccio P et al. (2007) Cleavage of cystatin C is not associated with multiple sclerosis.
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7. |
Bertram L et al. (2007) Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
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8. |
Mi W et al. (2007) Cystatin C inhibits amyloid-beta deposition in Alzheimer's disease mouse models.
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9. |
Kaeser SA et al. (2007) Cystatin C modulates cerebral beta-amyloidosis.
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10. |
Abrahamson M et al. (1990) Structure and expression of the human cystatin C gene.
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11. |
Abrahamson M et al. (1989) The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20.
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12. |
Löfberg H et al. () Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis.
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13. |
Grubb A et al. (1982) Human gamma-trace, a basic microprotein: amino acid sequence and presence in the adenohypophysis.
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14. |
Löfberg H et al. (1983) Occurrence of gamma-trace in the calcitonin-producing C-cells of simian thyroid gland and human medullary thyroid carcinoma.
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15. |
Huh C et al. (1995) Structural organization, expression and chromosomal mapping of the mouse cystatin-C-encoding gene (Cst3).
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16. |
Dickinson DP et al. (1994) Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2.
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17. |
Abrahamson M et al. (1994) Increased body temperature accelerates aggregation of the Leu-68-->Gln mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy.
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18. |
Schnittger S et al. (1993) Cystatin C (CST3), the candidate gene for hereditary cystatin C amyloid angiopathy (HCCAA), and other members of the cystatin gene family are clustered on chromosome 20p11.2.
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19. |
None (1995) The human cystatin C gene promoter: functional analysis and identification of heterogeneous mRNA.
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20. |
Blacker D et al. (1997) ApoE-4 and age at onset of Alzheimer's disease: the NIMH genetics initiative.
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21. |
Merz GS et al. (1997) Human cystatin C forms an inactive dimer during intracellular trafficking in transfected CHO cells.
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22. |
Monastero R et al. (2005) No association between the cystatin C gene polymorphism and Alzheimer's disease: a case-control study in an Italian population.
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23. |
Abrahamson M et al. (1992) Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis.
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24. |
Jensson O et al. (1989) The saga of cystatin C gene mutation causing amyloid angiopathy and brain hemorrhage--clinical genetics in Iceland.
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25. |
Palsdottir A et al. (1988) Mutation in cystatin C gene causes hereditary brain haemorrhage.
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26. |
Abrahamson M et al. (1987) Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C.
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27. |
Ghiso J et al. (1986) Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C).
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28. |
Jensson O et al. (1987) Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage.
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29. |
Ghiso J et al. (1986) Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases.
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30. |
Hochwald GM et al. (1985) Abnormal metabolism or reduced transport of CSF gamma-trace microprotein in hereditary cerebral hemorrhage with amyloidosis.
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31. |
Grubb A et al. (1984) Abnormal metabolism of gamma-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis.
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32. |
Cohen DH et al. (1983) Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace.
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33. |
Shi GP et al. (1999) Cystatin C deficiency in human atherosclerosis and aortic aneurysms.
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34. |
Crawford FC et al. (2000) A polymorphism in the cystatin C gene is a novel risk factor for late-onset Alzheimer's disease.
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35. |
Finckh U et al. (2000) Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease.
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36. |
Zurdel J et al. (2002) CST3 genotype associated with exudative age related macular degeneration.
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37. |
Löfberg H et al. (1979) Quantitation of gamma-trace in human biological fluids: indications for production in the central nervous system.
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38. |
Goddard KA et al. (2004) Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease.
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39. |
Cathcart HM et al. (2005) Cystatin C as a risk factor for Alzheimer disease.
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40. |
Pirttilä TJ et al. (2005) Cystatin C expression is associated with granule cell dispersion in epilepsy.
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41. |
Nacmias B et al. (2006) Cystatin C and apoe polymorphisms in Italian Alzheimer's disease.
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42. |
NCBI article
NCBI 1471
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43. |
OMIM.ORG article
Omim 604312
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44. |
Orphanet article
Orphanet ID 120865
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45. |
Wikipedia Artikel
Wikipedia DE (Cystatin_C)
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Update: 14. August 2020