GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneCCS
Other namesMGC138260
Gene namecopper chaperone for superoxide dismutase
Gene inheritanceSALS genes
Discovery methodGWAS
CategoryOXIDATIVE STRESS
Chromosome11q13
GRCh37 (hg19)Chr11:66360690-66373490 ( +)
GRCh38 (hg38)Chr11:66593159-66606019(+)
BackgroundGene responsible for copper insertion into SOD1
ResultNo association with human ALS demonstrated/ replicated
Mutations0
Patients0

BIOINFORMATICS

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Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB ALS Data Browser

ANIMAL MODELS

                               

KEY PUBLICATIONS (1)

First_AuthorYearTitlePaper
Silahtaroglu2002Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)Full_Paper