LRPPRC
Homo sapiens
Gene Name: leucine rich pentatricopeptide repeat containing
Aliases: CLONE-23970, GP130, LRP130, LSFC
Chromosome No: 2
Chromosome Band: 2p21
Genetic Category: Functional-Rare single gene variant
Aliases: CLONE-23970, GP130, LRP130, LSFC
Chromosome No: 2
Chromosome Band: 2p21
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 5
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 5
Evidence score: 2
| 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
May play a role in RNA metabolism in both nuclei and mitochondria. Defects in LRPPRC are the cause of Leigh syndrome French-Canadian type (LSFC) [MIM:220111].
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
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
