Gene Symbol | SMG6 |
Entrez Gene ID | 23293 |
Full Name | SMG6, nonsense mediated mRNA decay factor |
Synonyms | C17orf31,EST1A,SMG-6,hSMG5/7a |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Feb 2014]. |
Disorder MIM: |