Gene: [20p112/CST3] cystatin C (amyloidosis VI, iceland type); hereditary cerebral hemorrhage with amyloidosis, Icelandic (HCHWAI); [HCHWAI CAA ]
COM | HGM indicates a location for CST3: 20 p11.2. |
FAG | Cystatin C (referred to as 'gamma-trace' alkaline microprotein in early sources; see Grubb, Lofberg: Scand J Clin Lab Invest, 45 (Suppl 177), 7-13, 1985) belongs to the superfamily of lysosomal cysteine proteinase inhibitors, which includes at least three different protein families: stefins (see GEM:03q13/CSTA), kininogens (see GEM:03q27/KNG), and cystatins (see FAM:CST/20p112)." |
HET | [1] Genetic defects of cystatin C (and possibly its disturbed
metabolism) are thought to be related with the Icelandic type of
amyloidosis VI. Note that Dutch type of this amyloidosis, clinically
similar to the Icelandic type, is related with Alzheimer type beta amyloid
rather than cystatin C. [2] MIM describes 10 clinical types of familial amyloidosis, a number of them (I, II, III, and IV) being determined by the transthyretin prealbumin gene mutations (GEM:18q121/PALB)." |
PRO | Probe C6a (Abrahamsom-1987) is a 777-bp cDNA fragment cloned at EcoRI site in the plasmid ?" |
REF | LOC,MOL "Abrahamson M &: Hum Genet, 82, 223-226,
1989 CLO,SEQ,EXP "Abrahamson M &: FEBS Lett, 216, 229-233, 1987 HIS,PHE,FOG "Arnason A: Acta Psychiat Neurol, 7, (Suppl), 1-180, 1935 FUN,MOL,PAT "Barrett &: BBRC, 120, 631-636, 1984 FUN,MOL,PAT "Cohen &: J Exp Med, 158, 623-628, 1983 CLO,SEQ,EXP "Ghiso J &: Biol Chem Hoppe-Seyler, 369, (Suppl), 205-208, 1988 FUN,MOL,PAT "Ghiso J &: BBRC, 136, 548-554, 1986a FUN,MOL,PAT "Ghiso J &: PNAS, 83, N9, 2974-2978, 1986b LOC,MOL "Gopal Rao &: CCG, 58, (HGM11), 2029, 1991 FUN,MOL,PAT "Grubb A &: New Engl J Med, 311, 1547-1549, 1984 FUN,MOL,PAT "Grubb A, Lofberg: PNAS, 79, 3024-3027, 1982 POL "Hughes D &: Hum Mol Genet, 1, N2, 143, 1992 FUN,MOL,PAT "Lofberg &: Stroke, 18, 431-440, 1987 FUN,MOL,PAT "Luyendijk &: J Neurol Sci, 85, 267-280, 1988 MUT,MOL,POL "Palsdottir A &: NAR, 18, 7471, 1990 MUT,MOL,POL "Palsdottir A &: Lancet, 2, 603-604, 1988 LIN,FAG "Polymeropoulos &: NAR, 19, 1164, 1991 LOC,EXP "Saitoh E &: BBRC, 162, 1324-1331, 1989 CLO,SEQ,GEN,STR,EXP,EVO "Saitoh E &: Gene, 61, N3, 329-338, 1987 FUN,MOL,PAT "Van Duinen &: PNAS, 84, N16, 5991-5994, 1987 |
SWI | SWISSPROT: P01034 |
KEY | neu, card, pep |
CLA | coding, basic |
LOC | 20 p11.22-.21 |
MIM | MIM: 105150 |
SYN | HCHWAI CAA |
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