DISEASES

Disease-gene associations mined from literature

Literature associating SMG6 and pancreatic adenosquamous carcinoma

SMG6 [ENSP00000263073]

Telomerase-binding protein EST1A; Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini . May have a general role in telomere regulation . Promotes in vitro the ability of TERT to elongate telomeres . Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization . Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER) (PubMed:12676087, PubMed:12699629).

Synonyms:  SMG6,  SMG6p,  hSMG6,  I3L176,  I3L1W8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM