GTR Home > Genes

MATR3 matrin 3

Also known as: MPD2; ALS21; VCPDM

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Amyotrophic lateral sclerosis 21
MedGen: C3807521OMIM: 606070GeneReviews: Not available
See labs

Genomic context

Location:
5q31.2
Sequence:
Chromosome: 5; NC_000005.10 (139273752..139331677)
Total number of exons:
19

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center