Search for a gene
C3 - complement C3
- Synonym(s) : ARMD9, C3a, C3a anaphylatoxin, C3b, complement component C3a, complement component C3b, CPAMD1, prepro-C3
- Previous symbols and names : complement component 3
- Type : gene with protein product
- Chromosomal location : 19p13.3
- OMIM: 120700
- HGNC: 1318
- UniProtKB: P01024
- Genatlas: C3
- Ensembl: ENSG00000125730
- IUPHAR-DB: -
- Reactome: P01024
- LOVD: C3
Diseases list
- Disease-causing germline mutation(s) in Atypical hemolytic uremic syndrome with complement gene abnormality
ORPHA:544472 - Disease-causing germline mutation(s) (loss of function) in Complement component 3 deficiency
ORPHA:280133

Gene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.