GCK

glucokinase

Ensembl:
ENSG00000106633
UniProt:
P35557
OMIM:
138079
Synonyms:
HK4, MODY2

Cilia effects upon perturbation of GCK

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.42) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased circulating glucose level; increased fasting circulating glucose level; increased circulating fructosamine level; impaired glucose tolerance; increased circulating alkaline phosphatase level; preweaning lethality; incomplete penetrance

Ciliopathy associations

  • Greig Cephalopolysyndactyly Syndrome

Subcellular localization

cytosol

Functional category

  • Motile cilium & axoneme

Function

Mutations in GCK cause Greig Cephalopolysyndactyly Syndrome (PMID: 22043488; 16829355).