MKX
Homo sapiens
Gene Name: mohawk homeobox
Aliases: C10orf48, IFRX, IRXL1
Chromosome No: 10
Chromosome Band: 10p12.1
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
Aliases: C10orf48, IFRX, IRXL1
Chromosome No: 10
Chromosome Band: 10p12.1
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 6
Recent Reports: 2
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
ASD Reports: 6
Recent Reports: 2
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants that were predicted to be probably damaging (defined as MPC 2) were identified in the MKX gene in ASD probands from the Autism Sequencing Consoritum, while an additional protein-truncating variant in this gene was observed in a case sample from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified MKX as a candidate gene with a false discovery rate (FDR) 0.01.
Molecular Function
The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
ASD
Support
Whole-genome sequencing analysis of Japanese autism spectrum disorder trios
ASD
Tic disorder
Recent Recommendation
Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.
ASD
Recent Recommendation
Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.
ASD
