TTI2
Homo sapiens
Gene Name: TELO2 interacting protein 2
Aliases: C8orf41
Chromosome No: 8
Chromosome Band: 8p12
Genetic Category: Syndromic-Rare single gene variant
Aliases: C8orf41
Chromosome No: 8
Chromosome Band: 8p12
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A homozygous missense variant in the TTI2 gene (c.1307T>A; p.I436N) was identified that segregated with severe intellectual disability, microcephaly, behavioral problems and autistic features, short stature, skeletal anomalies, and facial dysmorphism in a large consanguineous multiplex family (Langouet et al., 2013).
Molecular Function
This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutation in TTI2 reveals a role for triple T complex in human brain development.
ID
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
