The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent dilution. Predicted molecular weight: 95 kDa.
May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs.
Involvement in disease
Defects in MATR3 are the cause of myopathy distal type 2 (MPD2) [MIM:606070]; also called vocal cord and pharyngeal dysfunction with distal myopathy (VCPDM). MPD2 is a muscular disorder characterized by distal weakness, with onset in hands and feet, associated with vocal cord and pharyngeal weakness causing a nasal voice and swallowing disorders.
Oveland E et al. Ligand-induced Flt3-downregulation modulates cell death associated proteins and enhances chemosensitivity to idarubicin in THP-1 acute myeloid leukemia cells. Leuk Res33:276-87 (2009).
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