Aliases for MATR3 Gene
External Ids for MATR3 Gene
Previous HGNC Symbols for MATR3 Gene
Previous GeneCards Identifiers for MATR3 Gene
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]
GeneCards Summary for MATR3 Gene
MATR3 (Matrin 3) is a Protein Coding gene. Diseases associated with MATR3 include Amyotrophic Lateral Sclerosis 21 and Distal Myopathy With Vocal Cord Weakness. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is ENSG00000280987.
UniProtKB/Swiss-Prot for MATR3 Gene
May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs.