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FLASH GENE
Symbol AQP5 contributors: mct - updated : 17-11-2010
HGNC name aquaporin 5
HGNC id 638
ASSOCIATED DISORDERS
corresponding disease(s) PPK1B
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
defective cellular trafficking of AQP5 in the lacrimal glands of Sjogren syndrome
tumoral     --over  
in lung cancer tissue associated with poor prognosis
Susceptibility
Variant & Polymorphism
Candidate gene for Sjögren's syndrome (SJGS)
Marker
Therapy target
SystemTypeDisorderPubmed
neurosensorial  
aquaporins appear to be important for the development of novel drug therapies for Meniere's disease and related disorders
cancer  
attractive therapeutic target in carcinogenesis
ANIMAL & CELL MODELS