PINX1
Homo sapiens
Gene Name: PIN2/TERF1 interacting, telomerase inhibitor 1
Aliases: LPTL; LPTS
Chromosome No: 8
Chromosome Band: 8p23.1
Genetic Category: Rare Single Gene variant
Aliases: LPTL; LPTS
Chromosome No: 8
Chromosome Band: 8p23.1
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 3
Annotated variants: 4
Associated CNVs: 9
Evidence score: 2
ASD Reports: 7
Recent Reports: 3
Annotated variants: 4
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare variants in the PINX1 gene have been identified in individuals with ASD (Pinto et al., 2010).
Molecular Function
The encoded protein is inhibitor of telomerase activity
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
The Pin2/TRF1-interacting protein PinX1 is a potent telomerase inhibitor.
Recent Recommendation
A shared docking motif in TRF1 and TRF2 used for differential recruitment of telomeric proteins.
Recent Recommendation
Plk1-mediated mitotic phosphorylation of PinX1 regulates its stability.
Recent Recommendation
PinX1 is a novel microtubule-binding protein essential for accurate chromosome segregation.