LRP2BP
Homo sapiens
Gene Name: LRP2 binding protein
Aliases:
Chromosome No: 4
Chromosome Band: 4q35.1
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 4
Chromosome Band: 4q35.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 13
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 13
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
The protein encoded by this gene may act as an adapter that regulates LRP2 function.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
