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Complement component C3

The gene C3 encodes a crucial complement component. Loss-of-function mutations result in autosomal recessive C3 deficiency whereas gain-of-function mutations have been observed in atypical HUS. Some polymorphisms have been associated with age-related macula degeneration.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hemolytic-Uremic Syndrome
ADAMTS13
C3
C4BPA
C4BPB
CD46
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
Methylmalonic aciduria
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
MMADHC
Methylmalonic aciduria type mut
MUT
PIGA
PLG
THBD
Complement C3 deficiency
C3
Age-related macula degeneration 01
APOE
ARMS2
C2
C3
CFH
CFHR1
CFHR3
KCNT2
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

References:

1.

Botto M et al. (1990) Molecular basis of polymorphisms of human complement component C3.

external link
2.

Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.

external link
3.

Brown KM et al. (2006) Influence of donor C3 allotype on late renal-transplantation outcome.

external link
4.

Yates JR et al. (2007) Complement C3 variant and the risk of age-related macular degeneration.

external link
5.

Maller JB et al. (2007) Variation in complement factor 3 is associated with risk of age-related macular degeneration.

external link
6.

Fang CJ et al. (2008) Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.

external link
7.

Loirat C et al. (2008) Complement and the atypical hemolytic uremic syndrome in children.

external link
8.

Orphanet article

Orphanet ID 160064 external link
9.

NCBI article

NCBI 718 external link
10.

OMIM.ORG article

Omim 120700 external link
11.

Wikipedia article

Wikipedia EN (Complement_component_3) external link
Update: Aug. 14, 2020
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