DISEASES

Disease-gene associations mined from literature

Literature associating SMG6 and Miller-Dieker lissencephaly syndrome

SMG6 [ENSP00000263073]

SMG6 nonsense mediated mRNA decay factor; 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).

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

Linkouts:  STRING  Pharos  UniProt  OMIM