MATR3, Official Symbol MATR3provided by HGNC Official Full Name matrin 3provided by HGNC Primary source HGNC:HGNC:6912 See related Ensembl:ENSG00000015479 MIM:164015; AllianceGenome:HGNC:6912 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MPD2; ALS21; VCPDM Summary This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in brain (RPKM 79.2), thyroid (RPKM 60.8) and 25 other tissues See more Orthologs mouse all