SMG6
Homo sapiens
Gene Name: SMG6, nonsense mediated mRNA decay factor
Aliases: C17orf31, EST1A, SMG-6, hSMG5/7a
Chromosome No: 17
Chromosome Band: 17p13.3
Genetic Category: Multigenic CNV-Rare single gene variant
Aliases: C17orf31, EST1A, SMG-6, hSMG5/7a
Chromosome No: 17
Chromosome Band: 17p13.3
Genetic Category: Multigenic CNV-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 6
Evidence score: 3
ASD Reports: 4
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Duplications involving SMG6 were statistically enriched (P=0.003373) in a cohort of 57,356 patients with neurodevelopmental disorders compared to a cohort of 20,474 controls and were identified in two cases with autism and developmental delay (Nguyen et al., 2013).
Molecular Function
This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
ID, DD
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
