Gene: [06p2133/C2] complement component 2 (C3/C5 convertase); systemic lupus erythematosus (liability?);
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GEN |
The gene length: 18 kb. |
|
MOP |
The C2a and C2b (+ C4B) fragments are subunits of the C3 convertase (EC:3.4.21.43)." |
|
PAT |
50% of both homo- and heterozygotes suffer from autoimmune diseases such as acute vascular purpura, erythema centrifugum and polymyositis." |
|
POP |
C2 deficit: frequency is 1/10000. |
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REF |
IDN,FUN,EXP "Austen &: Bull WHO, 39, 935-938, 1968 PAT,MOL,PHE "Austen Kf: New Engl J Med, 276, 1363-1367, 1967 PAT,MOL,PHE "Awdeh &: J Clin Invest, 67, 581-583, 1981 PAT,MOL,PHE "Belin &: Arthritis Rheum, 23, 898-903, 1980 PEP,SEQ,EVO "Bentley DR: Biochem J, 239, 339-345, 1986 PRO,SEQ,EXP "Bentley DR, Porter: PNAS, 81, 1212-1215, 1984 PAT,MOL,PHE "Callen &: Arch Derm, 123, 66-70, 1987 MAF "Carroll MC &: PNAS, 82, 521-525, 1985 MAF "Carroll MC &: Nature, 307, 237-241, 1984 PAT,MOL,PHE "Cole &: New Engl J Med, 313, 11-16, 1985 LOC,LIN,MAP "Day NK &: Vox Sang, 31, 96-102, 1976 PAT,MOL,PHE "Day NK &: J Exp Med, 141, 1464-1469, 1975 LOC,LIN,MAP "Dewald, Rittner: Vox Sang, 37, 47-54, 1979 MAF "Dunham I &: PNAS, 84, N20, 7237-7241, 1987 PAT,MOL,PHE "Efthimiou &: Ann Rheum Dis, 45, 428-430, 1986 LOC,LIN,MAP "Fu SM &: J Exp Med, 140, 1108-1111, 1974 PAT,MOL,PHE "Gewurz &: Arthritis Rheum, 21, 28-36, 1978 PRO,SEQ,EXP,ENG,MOP "Horiuchi T &: J Immunol, 142, N6, 2105-2111, 1989 PAT,MOL,PHE "Kim &: Am J Med, 62, 765-771, 1977 PAT,MOL,PHE "Klemperer &: J Clin Invest, 45, 880-890, 1966 PAT,MOL,PHE "Leddy &: Am J Med, 58, 83-91, 1975 PAT,MOL,PHE "Loirat &: Arch Path Lab Med, 100, 467-472, 1980 LOC,LIN,MAP "Mahowald &: Vox Sang, 37, 321-328, 1979 PAT,MOL,PHE "Mortensen JP &: Immunology, 39, 541-549, 1980 PAT,MOL,PHE "Polley Mj: Science, 161, 1149-1151, 1968 PAT,MOL,PHE "Provost &: Arthritis Rheum, 26, 1279-1282, 1983 LOC,LIN,MAP "Wolski &: Tissue Antigens, 7, 35-38, 1976 PRO,SEQ,EXP "Woods DE &: J Clin Invest, 74, N2, 634-638, 1984 |
|
KEY |
imm, comp, aim |
|
CLA |
coding, basic |
|
LOC |
06 p21.33 |
|
MIM |
MIM: 217000 |
|
EZN |
ENZYME: 3.4.21.43 |
