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FLASH GENE
Symbol FNIP1 contributors: mct - updated : 17-05-2021
HGNC name folliculin interacting protein 1
HGNC id 29418
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity
constitutional       loss of function
FNIP1 disruption resulted in many cellular and molecular changes previously implicated in the development of PKD
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Fnip1(-/-) mice develop normally, are not susceptible to kidney neoplasia, but display a striking pro-B cell block that is entirely independent of mTOR activity
  • loss of Fnip1 profoundly mitigated muscle damage in a murine model of Duchenne muscular dystrophy