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Relevance to Autism

MTX2 showed consistently reduced expression in 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

Involved in transport of proteins into the mitochondrion.

External Links

        

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
2
Deletion
 1
 
2
Deletion-Duplication
 16
 
2
Deletion
 3
 
2
Deletion
 2
 
2
Deletion
 1
 
2
Deletion
 2
 
2
Deletion
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
C9ORF89 Bcl10-interacting CARD protein 84270 Q96LW7-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCDC155 coiled-coil domain containing 155 147872 Q8N6L0 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CD244 Natural killer cell receptor 2B4 51744 Q9BZW8-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 54927 A4D1N4 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 84303 Q9BRQ6 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
IMMT inner membrane protein, mitochondrial 10989 Q16891 IP; LC-MS/MS
Huttlin EL , et al. 2015
MTX3 metaxin 3 345778 Q5HYI7 IP; LC-MS/MS
Huttlin EL , et al. 2015
SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae) 25813 Q9Y512 IP; LC-MS/MS
Huttlin EL , et al. 2015
TADA2A transcriptional adaptor 2A 6871 O75478 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014

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