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FLASH GENE
Symbol RER1 contributors: mct - updated : 15-03-2018
HGNC name RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)
HGNC id 30309
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
loss of RER1 resulted in the shortening of cilium and impairment of its motile or sensory function, which was reflected by hearing, vision, and left-right asymmetry defects as well as decreased Hedgehog signaling
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS