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FLASH GENE
Symbol AIMP1 contributors: mct - updated : 05-07-2017
HGNC name aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
HGNC id 10648
ASSOCIATED DISORDERS
corresponding disease(s) PMLD3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
resulting in the dramatic reduction of plasma gucagon levels, and inducing pancreatic secretion of glucagon for blood glucose homeostasis
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
Mice lacking MSC p43 exhibited axon degeneration in motor neurons, defective neuromuscular junctions, muscular atrophy, and motor dysfunction