TERB2
Homo sapiens
Gene Name: telomere repeat binding bouquet formation protein 2
Aliases: C15orf43
Chromosome No: 15
Chromosome Band: 15q21.1
Genetic Category: Rare Single Gene variant
Aliases: C15orf43
Chromosome No: 15
Chromosome Band: 15q21.1
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 2
Evidence score: null
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 2
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Rare variants in the TERB2 gene (formerly known as the C15orf43 gene) have been identified with autism (Pinto et al., 2010).
Molecular Function
Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis.
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
