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This locus encodes a nuclear matrix protein. Additionally we are shipping Matrin 3 Antibodies (61) and Matrin 3 Kits (9) and many more products for this protein.
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A missense mutation in MATR3 was identified in myopathy patients undergoing a needle electromyography.
Our findings indicate that mutations in Matrin 3 that are associated with ALS and myopathy do not dramatically alter the normal localization of the protein or readily induce inclusion formation.
Three-dimensional mapping of the lamin A (show LMNA Proteins)-matrin-3 interface showed that the LMNA (show LMNA Proteins) truncating mutation Delta303, which lacks the matrin-3 binding domain, was associated with an increased distance between lamin A (show LMNA Proteins) and matrin-3.
Suppressing Matrin 3 powers a heightened and broader ZAP restriction of HIV-1 gene expression.
MATR3 mutation is identified to be a possible cause of amyotrophic lateral sclerosis.
No mutations were identified, indicating that MATR3 mutations are not a common cause of Amyotrophic lateral sclerosis in Australian familial cases with predominately European ancestry
MATR3 gene disruption is associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
Mutations in MATR3 are rare in French familial ALS and ALS with FTLD patients.
This study shows a high risk of abnormal respiratory function with progressive worsening in MATR3 myopathy.
Nuclear matrix protein Matrin3 regulates alternative splicing and forms overlapping regulatory networks with PTB (show PTBP1 Proteins).
Matr3(Gt-ex13) gene trap insertion disturb the polyadenylation of MATR3 transcripts and alter Matrin 3 protein expression.
Matrin 3 interacts specifically with the heat shock proteins glucose-regulated protein 78 (show HSPA5 Proteins), GRP75 (show HSPA9 Proteins) and glutathione S-transferase (show GSTa2 Proteins) pi isoform 2.
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.
, matrin 3
, vocal cord and pharyngeal weakness with distal myopathy
, nuclear scaffold protein P130/MAT3