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FLASH GENE

Symbol

TRMU

contributors: mct/npt/pgu - updated : 25-05-2014

HGNC name	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
HGNC id	25481

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AILF

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       missense mutation (G28T) altering an invariant amino acid residue (A10S) in the N-terminal region associated to mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation in aminoglycoside-induced and nonsyndromic deafness

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS