CFHR3 complement factor H related 3
Gene ID: 10878, updated on 31-Mar-2024Gene type: protein coding
Also known as: FHR3; HLF4; CFHL3; FHR-3; DOWN16
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- Go to complete Gene record for CFHR3
- Go to Variation Viewer for CFHR3 variants
Summary
The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Age related macular degeneration 1 | See labs |
| Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. GeneReviews: Not available | |
| Genome-wide association study identifies susceptibility loci for IgA nephropathy. GeneReviews: Not available | |
| Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. GeneReviews: Not available | |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | See labs |
Genomic context
- Location:
- 1q31.3
- Sequence:
- Chromosome: 1; NC_000001.11 (196774840..196795407)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CFHR3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CFHR3 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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