| Entrez Gene ID |
23293 |
| Official Gene Symbol |
SMG6 (GeneCards) |
| Full name |
SMG6, nonsense mediated mRNA decay factor |
| Location |
17p13.3 |
| Other ids |
Vega : OTTHUMG00000177578
MIM : 610963
HGNC : HGNC:17809
Ensembl : ENSG00000070366
|
| Other names |
EST1A,
SMG-6,
C17orf31,
hSMG5/7a
|
| 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] |