DLX6
Homo sapiens
Gene Name: distal-less homeobox 6
Aliases: MGC125282; MGC125283; MGC125284; MGC125285; DLX6
Chromosome No: 7
Chromosome Band: 7q21.3
Genetic Category: Rare Single Gene variant
Aliases: MGC125282; MGC125283; MGC125284; MGC125285; DLX6
Chromosome No: 7
Chromosome Band: 7q21.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 4
Annotated variants: 4
Associated CNVs: 2
Evidence score: 2
ASD Reports: 10
Recent Reports: 4
Annotated variants: 4
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the DLX6 gene have been identified with autism (Nakashima et al., 2010).
Molecular Function
Transcription factor
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Expression analysis and mutation detection of DLX5 and DLX6 in autism.
ASD
Support
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.
ASD
Highly Cited
Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome.
Highly Cited
DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG.
Recent Recommendation
An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain.
Recent Recommendation
Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects.
Recent Recommendation
Positive regulation of steroidogenic acute regulatory protein gene expression through the interaction between Dlx and GATA-4 for testicular steroid...
Recent Recommendation
The transcription factor MEF2C is required for craniofacial development.
