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Relevance to Autism

Reduced expression in two out of three brain regions (anterior cingulate gyrus, motor cortex, and thalamus) following gene expression analysis of postmortem brain tissue of autism patients (Anitha et al., 2012).

Molecular Function

The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA).

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Brain region-specific altered expression and association of mitochondria-related genes in autism.
ASD

Rare

No Rare Variants Available

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 
3
Duplication
 2
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Deletion-Duplication
 8
 

No Animal Model Data Available

 

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