| Home Page |
| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 16-05-2009 |
| Symbol | C7D |
| Location | 5p13 |
| Name | complement component 7 deficiency |
| Other name(s) | C7 deficiency |
| Corresponding gene | C7 |
| Main clinical features | infections, recurrent, neisserial |
| Genetic determination | autosomal dominant |
| Function/system disorder | defense and immunity |
| Type | disease |
| Gene product |
| Name | complement component 7 (C7) |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|
| abnormal protein/loss of function
| (R499S) mutant protein is retained in the endoplasmic reticulum whereas the wild-type C7 is located in the Golgi apparatus,and represents a loss-of-function polymorphism due to a defective folding of the protein (Rameix-Welti 2007)
| |
| Remark(s) |