Gene: CD46

Alternate names for this Gene: AHUS2|MCP|MIC10|TLX|TRA2.10

Gene Summary: The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.2

Description of this Gene: CD46 molecule

Type of Gene: protein-coding

rs769742294 in CD46 gene and Atypical Hemolytic Uremic Syndrome PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 20513133 2010 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

PMID 24944786 2014 Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri.

PMID 26559391 2016 The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

PMID 23731345 2013 Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.

PMID 26307634 2015 Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome.

PMID 28056875 2017 Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.

PMID 16762990 2006 Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.

PMID 23431077 2013 Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

PMID 17089378 2007 The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

PMID 25899302 2016 A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience.

rs2724384 in CD46 gene and Febrile Convulsions PMID 25344690 2014 Common variants associated with general and MMR vaccine-related febrile seizures.

rs121909589 in CD46 gene and HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID 19846853 2009 Atypical hemolytic-uremic syndrome.

PMID 16621965 2006 Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

PMID 19821824 2010 Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.

PMID 16386793 2006 Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.

PMID 14566051 2003 Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.

PMID 20513133 2010 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

rs35118522 in CD46 gene and RESTING HEART RATE PMID 29769521 2018 Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system.

PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

rs11118555 in CD46 gene and heart rate PMID 23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.