MTF1
Homo sapiens
Gene Name: metal-regulatory transcription factor 1
Aliases: MTF-1
Chromosome No: 1
Chromosome Band: 1p34.3
Genetic Category: Genetic Association-Syndromic-Rare single gene variant
Aliases: MTF-1
Chromosome No: 1
Chromosome Band: 1p34.3
Genetic Category: Genetic Association-Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 0
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the MTF1 gene and autism in an AGRE cohort (Serajee et al., 2004).
Molecular Function
The encoded protein is Zn binding transcription factor that mediates regulation of metallothionein genes.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Diagnostic exome sequencing in persons with severe intellectual disability.
ID
Epilepsy, ASD
Support
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
ASD
Highly Cited
Nucleo-cytoplasmic trafficking of metal-regulatory transcription factor 1 is regulated by diverse stress signals.
Recent Recommendation
Metallothioneins and zinc dysregulation contribute to neurodevelopmental damage in a model of perinatal viral infection.
