| complement factor H related 1 | OKDB#: 3099 |
| Symbols: | CFHR1 | Species: | human | ||
| Synonyms: | H36, CFHL, FHR1, HFL1, HFL2, CFHL1, FHR-1, H36-1, H36-2, CFHL1P, CFHR1P | Locus: | 1q31.3 in Homo sapiens |
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| General Comment | NCBI Summary: 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] | ||||
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| Ovarian localization | Cumulus | ||||
| Comment | The human cumulus-oocyte complex gene-expression profile. Assou S et al. BACKGROUND: The understanding of the mechanisms regulating human oocyte maturation is still rudimentary. We have identified transcripts differentially expressed between immature and mature oocytes and cumulus cells. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | June 20, 2006, 11 a.m. | by: |
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| last update: | May 7, 2021, 4:12 p.m. | by: | hsueh email: |
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