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FLASH GENE
Symbol ATP13A4 contributors: - updated : 15-12-2005
HGNC name ATPase type 13A4
HGNC id 25422
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
  germinal mutation inversion --low  
a paracentric inversion involving chromosome 3q25-q29 in a 7-year-old girl with language delay, the distal breakpoint disrupted the ATP13A4 gene and inactivating 1 copy of the gene
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS