MNT
Homo sapiens
Gene Name: MAX network transcriptional repressor
Aliases: MAD6, MXD6, ROX, bHLHd3
Chromosome No: 17
Chromosome Band: 17p13.3
Genetic Category: Genetic association
Aliases: MAD6, MXD6, ROX, bHLHd3
Chromosome No: 17
Chromosome Band: 17p13.3
Genetic Category: Genetic association
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 6
Evidence score: null
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 6
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Two SNPs within 100 kb of the MNT gene (one intronic, one intergenic) showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).
Molecular Function
This gene encoded a protein member of the Myc/Max/Mad network, which comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.
ASD
Rare
No Rare Variants Available
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN780C001
intergenic_variant
rs2447097
315 ASD cases, 1115 healthy controls (Taiwanese Han)
Discovery
GEN780C002
intron_variant
rs2447095
c.808-2077T>C;c.865-2077T>C;c.832-2077T>C;c.-37+1277T>C
315 ASD cases, 1115 healthy controls (Taiwanese Han)
Discovery
