Gene: [12p13/C1S] complement component 1, s subcomponent (C1 esterase); complement C1S deficiency;
FUN | The mature peptide product of C1S gene exhibits the properties of a serine protease. It splits the complement components C2 and C4, which fragments (C4b and C2a) form C3 convertase. The enzyme also hydrolyses substituted ethers of tyrosine and lysine. The enzyme is obtained in plasma from the proenzyme C1s with the aid of C1r." |
REF | MUT "Inoue N &: Hum
Genet, 103, N4, 415-418, 1998 CLO,COD,SEQ,MAF,FAG,EXP "Kusumoto H &: PNAS, 85, N19, 7307-7311, 1988 LOC "Nguyen VC &: Hum Genet, 78, 363-368, 1988 SEQ,MAP "Tosi M &: Biochemistry, 26, 8516-8524, 1987 |
SWI | SWISSPROT: P09871 |
KEY | imm, comp |
CLA | coding, basic |
LOC | 12 p13 |
MIM | MIM: 120580 |
EZN | ENZYME: 3.4.21.42 |
