GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneCRYM
Other namesTHBP; DFNA40; CRYM
Gene namecrystallin, mu
Gene inheritanceSALS genes
Discovery methodGWAS
Category 
Chromosome16p
GRCh37 (hg19)Chr16:21269839-21314404 ( -)
GRCh38 (hg38)Chr16:21258518-21303083(-)
BackgroundTo identify novel disease-causing genes for amyotrophic lateral sclerosis (ALS).
ResultThe Arg169Cys missense variant identified here might be considered as contributing to ALS.
Mutations1
Patients1
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
0110010671

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (2)

First_AuthorYearTitlePaper
Daoud2011Resequencing of 29 Candidate Genes in Patients With Familial and Sporadic Amyotrophic Lateral SclerosisFull_Paper
Daoud2011Resequencing of 29 Candidate Genes in Patients With Familial and Sporadic Amyotrophic Lateral SclerosisFull_Paper