Matrin-3 - CISMeF

Preferred Label : Matrin-3;

NCIt definition : Matrin-3 (847 aa, 95 kDa) is encoded by the human MATR3 gene. This protein may be involved in the structure of the internal fibrogranular network in the nucleus. A point mutation in the gene is associated with distal myopathy with vocal cord and pharyngeal weakness.;

NCIt note : Matrin-3 is part of complex that also contains the SFPQ, and NONO gene products. (UniProt);

Details

Origin ID

C88993;

UMLS CUI

C1869169;

OMIM relation
- Matrin 3 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- MATR3 protein, human [MeSH concept]
- MATR3 protein, human [MeSH Supplementary Concept]
gene_encodes_gene_product
- MATR3 Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nuclear Matrix [NCIt concept]
gene_product_has_biochemical_function
- Nuclear Protein [NCIt concept]

Keyword's position in hierarchy(ies) :

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