This locus encodes a nuclear matrix protein. Mutations at this locus have been associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts with an upstream locus have been described. Related pseuodgenes have been defined on chr1 and chrX.
MATR3; matrin 3; MPD2, myopathy, distal 2; matrin-3; KIAA0723; MGC9105; VCPDM; vocal cord and pharyngeal weakness with distal myopathy; MPD2; DKFZp686K0542; DKFZp686K23100