SMG6

SMG6 nonsense mediated mRNA decay factor

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000070366
UniProt:
Q86US8
OMIM:
610963
Synonyms:
C17ORF31, EST1A, KIAA0732, SMG-6

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
decreased hematocrit, preweaning lethality, complete penetrance, scaly skin, abnormal spleen morphology, abnormal startle reflex, enlarged spleen, embryonic lethality prior to organogenesis, abnormal skin morphology

Subcellular localization

basal body, cytosol, nucleus, transition zone, ciliary tip

References: PMID:41005307

Functional category

  • Ciliary assembly/disassembly
  • Transition zone

Function

SMG6 has localized in basal body, transition zone.