MATR3

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]

Description

Matrin 3

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Human disease related genes
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

5 (139273752 - 139331671)

Ensembl ID

ENSG00000280987  (ver. 103.38)

Orthologs

-

UniProt

 

neXtProt

 

Human splice variants

Protein structure