DNAJC19
Homo sapiens
Gene Name: DnaJ heat shock protein family (Hsp40) member C19
Aliases: PAM18, TIM14, TIMM14
Chromosome No: 3
Chromosome Band: 3q26.33
Genetic Category: Functional
Aliases: PAM18, TIM14, TIMM14
Chromosome No: 3
Chromosome Band: 3q26.33
Genetic Category: Functional
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 0
Associated CNVs: 8
Evidence score: null
ASD Reports: 1
Recent Reports: 0
Annotated variants: 0
Associated CNVs: 8
Evidence score: null
| Associated Disorders: |
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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).
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
