MBD6
Homo sapiens
Gene Name: Methyl-CpG binding domain protein 6
Aliases: KIAA1887
Chromosome No: 12
Chromosome Band: 12q13.3
Genetic Category: Rare single gene variant
Aliases: KIAA1887
Chromosome No: 12
Chromosome Band: 12q13.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 17
Associated CNVs: 7
Evidence score: 3
ASD Reports: 3
Recent Reports: 0
Annotated variants: 17
Associated CNVs: 7
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
A total of 11 ASD-specific variants, seven of which were non-synonymous, in the MBD6 gene were identified in cases but not controls. One of these variants, MBD6 Arg883Trp, segregated with disease in a multiplex ASD family (Cukier et al., 2012).
Molecular Function
Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro)
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN437R002
missense_variant
c.1379C>G
p.Ser460Cys
Familial
Paternal
Multiplex
GEN437R003
missense_variant
c.1414G>T
p.Val472Leu
Familial
Maternal
Multiplex
GEN437R005
missense_variant
c.2647C>T
p.Arg883Trp
Familial
Maternal
Multiplex
Common
No Common Variants Available
