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Relevance to Autism

Screening of prefrontal cortex (PFC) of 15 subjects diagnosed with autism and 15 matched controls revealed decreased expression (-45%) of RPP25, which is located within the 15q22-q26 autism susceptibility locus (Huang et al., 2010).

Molecular Function

Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP. This subunit binds to RNA.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN375R001 
 frameshift_variant 
 c.339_349del 
 p.Thr114AspfsTer8 
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Deletion
 3
 
15
Deletion
 1
 
15
Duplication
 2
 
15
Deletion
 8
 
15
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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