Positive Control: Daudi, mouse brain tissue lysate, Hela, LOVO, SH-SY-5Y, rat brain tissue, human tonsil tissue, human lung cancer tissue, human liver tissue, mouse testis tissue.
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.
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Protein Aliases: Matrin-3; vocal cord and pharyngeal weakness with distal myopathy
Gene Aliases: ALS21; KIAA0723; MATR3; MPD2; VCPDM
UniProt ID: (Human) P43243
Entrez Gene ID: (Human) 9782