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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