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Article

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.

Human mutation - 1 Mar 2006

Heinen Stefan, Sanchez-Corral Pilar, Jackson Michael S, Strain Lisa, Goodship Judith A, Kemp Elizabeth J, Skerka Christine, Jokiranta T Sakari, Meyers Kevin, Wagner Eric, Robitaille Pierre, Esparza-Gordillo Jorge, Rodriguez de Cordoba Santiago, Zipfel Peter F, Goodship Timothy H J

Abstract excerpt

Many of the complement regulatory genes within the RCA cluster (1q32) have arisen through genomic duplication and the resulting high degree of sequence identity is likely to predispose to gene conversion events. The highest degree of identity is between the genes for factor H (CFH) and five factor H-related proteins--CFHL1, CFHL2, CFHL3, CFHL4, and CFHL5. CFH mutations are associated with atypical hemolytic...

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Share to Chromosomes, Human, Pair 1
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16470555
DOI: 10.1002/humu.9408

Genes

CFH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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