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FLASH GENE
Symbol MERTK contributors: mct/shn - updated : 12-10-2010
HGNC name c-mer proto-oncogene tyrosine kinase
HGNC id 7027
ASSOCIATED DISORDERS
corresponding disease(s) RPMR
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
may reflect an increased demand for removal of apoptotic cells in smokers, an observation with implications for the development of chronic obstructive pulmonary disease, a disorder associated with dysregulated apoptosis of lung parenchymal cells
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
bloodcoagulation 
potential therapeutic use for soluble MERTK in the treatment of clotting disorders
ANIMAL & CELL MODELS
  • mice that lack the Merk signaling tyrosine kinase domain exhibit edema, leukocyte infiltration, and signs of endotoxic shock then die of endotoxic shock
  • viral gene transfer of Mertk to a RCS rat retina can correct both functional cellular defect (phagocytosis) and photoreceptor degeneration
  • mutation of the Mertk in Royal College of Surgeons (RCS) rat leads to retinal degeneration in which the RPE fails to phagocytose shed outer segments
  • mer(kd) mice with a cytoplasmic truncation of Mer have macrophages deficient in the clearance of apoptotic thymocytes
  • mice with disruption of Mertk gene manifest a retinal dystrophy phenotype similar to RCS rats
  • MerTK-deficient mice develop retinal degeneration due to defective RPE phagocytosis, whereas ablation of Axl or Tyro3 appears to have minimal impact on retinal homeostasis