C8A Chromosome 1
Complement C8 alpha chain
Upload your DNA to see your personal genotypes for variants in C8A.
What This Gene Does
C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]
Gene Info
Gene Group
"Complement system activation components|Membrane Attack complex"
Locus Type
gene with protein product
Location
1p32.2
Ensembl
ENSG00000157131
Associated Conditions (4)
Type I complement component 8 deficiency
C8A-related disorder
Acute myeloid leukemia
Hepatocellular carcinoma
Key Variants
RS1039760932
Conflicting classifications of pathogenicity
Health Risk
RS143256214
Conflicting classifications of pathogenicity
Health Risk
RS143908758
Conflicting classifications of pathogenicity
Type I complement component 8 deficiency, C8A-related disorder, Type I complement component 8 deficiency
Health Risk
RS201034819
Conflicting classifications of pathogenicity
Health Risk
RS375719279
Conflicting classifications of pathogenicity
Health Risk
RS74075638
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS766402054
Conflicting classifications of pathogenicity
Health Risk
RS1178623529
Likely pathogenic
Health Risk
RS760091174
Likely pathogenic
Health Risk
RS769554105
Likely pathogenic
Health Risk
RS770385213
Likely pathogenic
Health Risk
RS775967055
Likely pathogenic
Type I complement component 8 deficiency, Hepatocellular carcinoma, Type I complement component 8 deficiency
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1039760932 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143256214 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143908758 | Health Risk | Conflicting classifications of pathogenicity | Type I complement component 8 deficiency, C8A-related disorder, Type I complement component 8 deficiency |
| RS201034819 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375719279 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74075638 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Acute myeloid leukemia |
| RS766402054 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1178623529 | Health Risk | Likely pathogenic | — |
| RS760091174 | Health Risk | Likely pathogenic | — |
| RS769554105 | Health Risk | Likely pathogenic | — |
| RS770385213 | Health Risk | Likely pathogenic | — |
| RS775967055 | Health Risk | Likely pathogenic | Type I complement component 8 deficiency, Hepatocellular carcinoma, Type I complement component 8 deficiency |
| RS1043425650 | Health Risk | Pathogenic | — |
| RS1228972002 | Health Risk | Pathogenic | — |
| RS1259084585 | Health Risk | Pathogenic | — |
| RS1332885313 | Health Risk | Pathogenic | — |
| RS140856114 | Health Risk | Pathogenic | Type I complement component 8 deficiency, Type I complement component 8 deficiency |
| RS1644246627 | Health Risk | Pathogenic | — |
| RS1644515876 | Health Risk | Pathogenic | — |
| RS2101219709 | Health Risk | Pathogenic | — |
| RS2522491093 | Health Risk | Pathogenic | — |
| RS2522618803 | Health Risk | Pathogenic | — |
| RS748438266 | Health Risk | Pathogenic | — |
| RS754227627 | Health Risk | Pathogenic | — |
| RS777495880 | Health Risk | Pathogenic | — |
| RS1286367946 | Health Risk | Pathogenic/Likely pathogenic | Type I complement component 8 deficiency, Type I complement component 8 deficiency |
| RS1381017299 | Health Risk | Pathogenic/Likely pathogenic | Type I complement component 8 deficiency, Type I complement component 8 deficiency |
| RS748306602 | Health Risk | Pathogenic/Likely pathogenic | Type I complement component 8 deficiency, Type I complement component 8 deficiency |