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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

Participates in the mitochondrial proton leak measured in brain mitochondria.

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
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN463R001 
 missense_variant 
 c.966G>T 
 p.Arg322Ser 
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Duplication
 2
 
X
Deletion-Duplication
 1
 

No Animal Model Data Available

 

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