C4B
Homo sapiens
Gene Name: complement component 4B
Aliases: CH, C4A, C4F, CO4, C4B1, C4B2, C4B3, C4B5, C4A13, C4A91, C4B12, CPAMD3
Chromosome No: 6
Chromosome Band: 6p21.33
Genetic Category: Genetic Association-Rare single gene variant--Functional
Aliases: CH, C4A, C4F, CO4, C4B1, C4B2, C4B3, C4B5, C4A13, C4A91, C4B12, CPAMD3
Chromosome No: 6
Chromosome Band: 6p21.33
Genetic Category: Genetic Association-Rare single gene variant--Functional
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 2
Evidence score: 0
ASD Reports: 6
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 2
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the C4B gene and autism (Odell et al., 2005). As well, studies have found decreased plasma concentrations of the C4B protein in autistic patients.
Molecular Function
The encoded protein is part of the classical pathway of the complement system.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Confirmation of the association of the C4B null allelle in autism.
ASD
Positive Association
DR-positive T cells in autism: association with decreased plasma levels of the complement C4B protein.
ASD
Positive Association
Decreased plasma concentrations of the C4B complement protein in autism.
ASD
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Highly Cited
Diversity of sites for measles virus binding and for inactivation of complement C3b and C4b on membrane cofactor protein CD46.
Highly Cited
Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in de...
