CD59 Chromosome 11
CD59 molecule (CD59 blood group)
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What This Gene Does
This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Blood group antigens|CD molecules|LY6/PLAUR domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
11p13
Ensembl
ENSG00000085063
Associated Conditions (2)
Inborn genetic diseases
Primary CD59 deficiency
Key Variants
RS971343343
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1853849281
Likely pathogenic
Primary CD59 deficiency, Primary CD59 deficiency
Health Risk
RS2495427706
Likely pathogenic
Health Risk
RS2133545024
Pathogenic
Primary CD59 deficiency, Primary CD59 deficiency
Health Risk
RS397514767
Pathogenic
Primary CD59 deficiency, Primary CD59 deficiency
Health Risk
RS587777149
Pathogenic
Primary CD59 deficiency, Primary CD59 deficiency
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS971343343 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1853849281 | Health Risk | Likely pathogenic | Primary CD59 deficiency, Primary CD59 deficiency |
| RS2495427706 | Health Risk | Likely pathogenic | — |
| RS2133545024 | Health Risk | Pathogenic | Primary CD59 deficiency, Primary CD59 deficiency |
| RS397514767 | Health Risk | Pathogenic | Primary CD59 deficiency, Primary CD59 deficiency |
| RS587777149 | Health Risk | Pathogenic | Primary CD59 deficiency, Primary CD59 deficiency |