Gene: SMG6
Alternate names for this Gene: C17orf31|EST1A|SMG-6|hSMG5/7a
Gene Summary: 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. Alternatively spliced transcript variants encoding distinct protein isoforms have been described.
Gene is located in Chromosome: 17
Location in Chromosome : 17p13.3
Description of this Gene: SMG6 nonsense mediated mRNA decay factor
Type of Gene: protein-coding
Gene: SRR
Alternate names for this Gene: ILV1|ISO1
Gene Summary:
Gene is located in Chromosome: 17
Location in Chromosome : 17p13.3
Description of this Gene: serine racemase
Type of Gene: protein-coding
rs4523957 in
SMG6;SRR gene and
Child Development Disorders, Pervasive
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
rs4523957 in
SMG6;SRR gene and
Schizophrenia
PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.
PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
PMID 23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.