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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

Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins.

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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
1
Duplication
 44
 
1
Duplication
 1
 
1
Duplication
 1
 
1
Duplication
 2
 
1
Duplication
 1
 
1
Deletion
 2
 
1
Deletion
 1
 
1
Deletion
 2
 
1
Deletion
 11
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
COX4I1 cytochrome c oxidase subunit IV isoform 1 1327 P13073 IP/WB
Sumpter R Jr , et al. 2016
FANCD2 Fanconi anemia, complementation group D2 2177 Q9BXW9 IP/WB
Sumpter R Jr , et al. 2016
HSPD1 heat shock 60kDa protein 1 (chaperonin) 3329 P10809 IP/WB
Sumpter R Jr , et al. 2016
PARK2 parkinson protein 2, E3 ubiquitin protein ligase (parkin) 5071 O60260 IP/WB
Sumpter R Jr , et al. 2016

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