GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneMATR3
Other namesMPD2; ALS21; VCPDM
Gene namematrin 3
Gene inheritanceFALS genes
Discovery methodNGS
Category 
Chromosome5q31.2
GRCh37 (hg19)Chr5:139273752-139331677(+)
GRCh38 (hg38)Chr5:139273752-139331677(+)
BackgroundMATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.
ResultData provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration.
Mutations4
Patients14
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
1312201405214

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (1)

First_AuthorYearTitlePaper
Johnson2014Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosisFull_Paper