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FLASH GENE
Symbol PDZRN3 contributors: mct - updated : 08-07-2015
HGNC name PDZ domain containing RING finger 3
HGNC id 17704
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
impairs embryonic angiogenic remodelling and postnatal retinal vascular patterning, with a loss of two-dimensional polarized orientation of the intermediate retinal plexus
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • overexpression of Pdzrn3 in skeletal muscle of transgenic mice perturbs the growth and maturation of the neuromuscular junction