GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneLUM
Other namesLDC; SLRR2D; LUM
Gene namelumican
Gene inheritanceFALS genes found in SALS
Discovery methodGWAS
Category 
Chromosome12q21.3
GRCh37 (hg19)Chr12:91497232-91505542 ( -)
GRCh38 (hg38)Chr12:91103455-91111765(-)
BackgroundTo identify novel disease-causing genes for amyotrophic lateral sclerosis (ALS).
ResultThe LUM gene constitutes a promising candidate for ALS; however, screening of this gene in additional cases will help determine its role in ALS pathogenesis.
Mutations1
Patients3
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
0330030533

BIOINFORMATICS

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Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB ALS Data Browser

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