Protein Name | matrin 3 |
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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 |
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Properties | |