Entity Details
| Primary name |
FHR3_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q02985 |
| EntryName | FHR3_HUMAN |
| FullName | Complement factor H-related protein 3 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 330 |
| SequenceStatus | complete |
| DateCreated | 1994-06-01 |
| DateModified | 2021-06-02 |
Subcellular Location
Show/Hide Table
| Subcellular Location |
| Secreted |
Domains
Show/Hide Table
| Domain | Name | Category | Type |
| IPR000436 | Sushi/SCR/CCP domain | Domain | Domain |
| IPR035976 | Sushi/SCR/CCP superfamily | Family | Homologous superfamily |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 235400 | OMIM | Hemolytic uremic syndrome atypical 1 (AHUS1) | An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. A deletion encompassing CFHR1 and CFHR3 is associated with an increased risk of atypical hemolytic uremic syndrome, likely due to a defective regulation of complement activation (PubMed:17367211). Some patients carrying the deletion have serum anti-CFH autoantibodies (PubMed:18006700). |
Interactions
3 interactions