Gene: [19p133/C3] complement component 3; nephritis membranoproliferative with lipodystrophy (C3 deficiency);


FUN

 Activation of the C3 component occurs via the proteolysis at the Arg-77 COOH group with the aid of C3 convertase, one of which isoforms is represented by the complex of complement subcomponents, C2a+C4b (GEM:06p2133/C2, GEM:06p2133/C4B), and the other, by fragment Bb of the properdin factor B (GEM:06p2133/BF)."

PRO

 [1] Gene-specific DNA probe pC3 is a 1.538 kb fragment cloned at PstI site in the vector pBR322 (Davies-1983).
[2] Gen-specific DNA probe pC3.11 (Botto-1990)."

POL

 Restrictase Alleles in kb/(Popul Freq) Reference; Probe number
[1] BglII A1= 14.0/(0.94); A2= 4.0/(0.06); Davies-1983; Probe 1
[2] SstI Davies-1983; Ghanem-1987; Probe 1 B1= 12.0/(0.64); B2= 9.0+3.0/(0.36) - in Caucasians B1 -'- /(0.68); B2 -'- /(0.32) - in Lebanese
[3] TaqI Dietz-1986; Probe 1) C1= 2.9/(0.11); C2= 1.8/(0.89) - in Caucasians C1 -'-/(0.06); C2 -'-/(0.94) - in Lebanese (Ghanem-1987)
[4] EcoRI D1= 5.2/(0.67); D2= 5.6/(0.33) Botto-1990; Probe 2"

MAP

 Loci: GEM:19p132/LDLR; GEM:19p1/ICAM4.
[1] See GEM:19p132/LDLR."

REF

 LIN,MAP "Ball &: CCG, 51, (HGM10), 956, 1989
LIN,MAP "Ball &: CCG, 37, (HGM7), 411, 1984a
LIN,MAP "Ball &: CCG, 37, (HGM7), 411-412, 1984b
POL,MOL "Botto M &: NAR, 18, N9, 2833, 1990
LIN,MAP "Brook JD &: CCG, 40, (HGM8), 590-591, 1985
LIN,MAP "Brook JD &: Hum Genet, 68, 282-285, 1984
PRO,CLO,LIN,MOL,POL "Davies KE &: J Med Genet, 20, 259-263, 1983
CLO,SEQ,PEP,EXP "de Bruijn MH &: PNAS, 82, 708-712, 1985
POL,MOL "Dietz JN &: Genet Epidemiol, 3, 313-321, 1986
LOC,LIN,CYG "Eiberg H &: Clin Genet, 24, 159-170, 1983
LOC,LIN,CYG "Eiberg H &: (in) Proc 6th Int Cong Hum Genet, 0-0, 1981
LIN,MOL,MAP "Friedrich U &: Hum Genet, 75, 291-293, 1987
POL,MOL "Ghanem &: Exp Clin Immunogenet, 4, 222-226, 1987
REV,FUN,MEB,EXP,PAT "Lambris JD: Immunol Today, 9, N12, 387-393, 1988
LIN,MAP "Lusis AJ &: PNAS, 83, N11, 3929-3933, 1986
MUT,MOL "Poznansky MC &: J Immunol, 143, N4, 1254-1258, 1989
FOG,POG,PAT "Rudduck &: Hum Hered, 35, 255-258, 1985
LIN,MAP "Sistonen P: Ann Hum Genet, 48, 239-242, 1984
PEP,EAG "Sottrup-Jensen &: PNAS, 82, N1, 9-13, 1985
LOC,LIN,CYG "Weitkamp &: CCG, 13, (HGM1), 183-184, 1974
PRO,CLO,LOC,CYG "Whitehead AS &: PNAS, 79, 5021-5025, 1982

KEY

 imm, comp, aim, hem

CLA

 coding, basic

LOC

 19 p13.3

MIM

 MIM: 120700

EZN

 ENZYME: 3.4.21.43