Protein Name matrin 3
Organism Homo sapiens
Gene ID 9782
Gene Symbol

MATR3

UniProt P43243 (MATR3_HUMAN), B3KM87 (B3KM87_HUMAN), B4DF66 (B4DF66_HUMAN), A0A0R4J2E8 (A0A0R4J2E8_HUMAN), Q9H4N1 (Q9H4N1_HUMAN)
Relationships Total Number of functionally related compound(s) : 23
Total Number of Articles : 14
Description

matrin 3

Gene Summary

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. [provided by RefSeq, Aug 2013]

synonyms
  • matrin-3
  • vocal cord and pharyngeal weakness with distal myopathy
  • ALS21
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Properties