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.
Immunogen Information
Immunogen
Recombinant protein of human MATR3
Swissprot
P43243
Synonyms
ALS21KIAA0723Matr3MATR3Matrin-3Matrin3MPD2VCPDMVocal cord and pharyngeal weakness with distal myopathy
Calculated MW
95 kDa
Gene Accession
BC015031
Applications
Reactivity
Human,Mouse
Tested Applications
WB,ELISA
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000
Concentration
0.4 mg/mL
Storage Buffer
PBS with 0.05% sodium azide and 50% glycerol, PH7.4