RPP25
Homo sapiens
Gene Name: ribonuclease P and MRP subunit p25
Aliases:
Chromosome No: 15
Chromosome Band: 15q24.2
Genetic Category: Functional-Rare single gene variant
Aliases:
Chromosome No: 15
Chromosome Band: 15q24.2
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 7
Evidence score: 0
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 7
Evidence score: 0
| Associated Disorders: |
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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
