Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

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

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3.

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

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4.

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

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5.

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

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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.

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7.

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

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8.

Orphanet article

Orphanet ID 160064 [^]
9.

NCBI article

NCBI 718 [^]
10.

OMIM.ORG article

Omim 120700 [^]
11.

Wikipedia article

Wikipedia EN (Complement_component_3) [^]
Update: April 29, 2019