Terminology Service for NFDI4Health

Matrin-3

Go to external page http://purl.obolibrary.org/obo/NCIT_C88993


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. [ ]

Term info

Label

Matrin-3

Synonyms
  • Matrin-3
DesignNote

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

OMIM Number

164015

Preferred Name

Matrin-3

Semantic Type

Amino Acid, Peptide, or Protein

Swiss Prot

P43243

UMLS CUI

C1869169

code

C88993