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FLASH GENE
Symbol GNAI3 contributors: mct/ - updated : 09-05-2014
HGNC name guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
HGNC id 4387
ASSOCIATED DISORDERS
corresponding disease(s) ACDS1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional        
hindered bone marrow cell development and thus reduced production of pre-thymic progenitors
tumoral somatic mutation      
in germinal centre B-cell
constitutional     --low  
absence of GNAI2 and GNAI3 in B cells profoundly disturbs the architecture of lymphoid organs with loss of B cell compartments in the spleen, thymus, lymph nodes, and gastrointestinal tract, resulting in a severe disruption of B cell function and a hyper-IgM like syndrome
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS