CFHR1 gene

complement factor H related 1

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

From NCBI Gene:

This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]

From UniProt:

Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.

Covered on Genetics Home Reference:

From NCBI Gene:

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

From UniProt:

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. [MIM:235400]

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

Molecular Location: base pairs 196,819,731 to 196,832,189 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 1q31.3, which is the long (q) arm of chromosome 1 at position 31.3
  • CFHL
  • CFHL1
  • CFHL1P
  • CFHR1P
  • FHR-1
  • FHR1
  • H36
  • H36-1
  • H36-2
  • HFL1
  • HFL2