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