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FLASH GENE
Symbol MARS2 contributors: mct - updated : 20-05-2015
HGNC name methionine-tRNA synthetase 2 (mitochondrial)
HGNC id 25133
ASSOCIATED DISORDERS
corresponding disease(s) SPAX3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
causative for a new mitochondrial translation deficiency disorder with a primary phenotype including developmental delay, poor growth, sensorineural hearing loss and hypotonia
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS