CFHR3 gene

complement factor H related 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Might be involved in complement regulation.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Age-related macular degeneration 1
  • Atypical hemolytic-uremic syndrome 1

Cytogenetic Location: 1q31.3, which is the long (q) arm of chromosome 1 at position 31.3

Molecular Location: base pairs 196,774,800 to 196,794,073 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q31.3, which is the long (q) arm of chromosome 1 at position 31.3
  • CFHL3
  • DOWN16
  • FHR-3
  • FHR3
  • HLF4