POT1
Homo sapiens
Gene Name: Protection of telomeres 1 homolog (S. pombe)
Aliases: HPOT1
Chromosome No: 7
Chromosome Band: 7q31.33
Genetic Category: Rare single gene variant
Aliases: HPOT1
Chromosome No: 7
Chromosome Band: 7q31.33
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A novel recurrent duplication involving of an exomic region of the POT1 gene was identified in two unrelated ASD cases in Prasad et al., 2012; however, no comparison with controls was reported, and segregation of the CNV with ASD was incomplete in one of two families (i.e. not all affected siblings were positive for the CNV).
Molecular Function
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
