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FLASH GENE
Symbol MPP5 contributors: npt/mct/pgu - updated : 24-05-2017
HGNC name membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)
HGNC id 18669
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
leads to the disruption of the apical localization of Crb proteins in retinal progenitors and the adult retina, validating their mutual interaction
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Pals1 mutant mouse exhibits the critical features of LCA such as early visual impairment as assessed by electroretinogram, disorganization of lamination and apical junctions and retinal degeneration