Details for Gene ALS2

GENE NAME ALS2
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000003393
UNIPROT ACCESSION NUMBER Q96Q42
GO MOLECULAR FUNCTION ['protein homodimerization activity', 'small GTPase binding', 'guanyl-nucleotide exchange factor activity', 'protein binding', 'protein serine/threonine kinase activator activity', 'identical protein binding', 'GTPase activator activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa05014; hsa05022; R-HSA-199991; R-HSA-5653656; R-HSA-8876198; R-HSA-9007101
4 combinations linked to ALS2 OLI778; OLI1704; OLI772; OLI955
4 variants linked to ALS2 ALS2:p.Ser654Gly; ALS2:p.Pro1288Leu; ALS2:c.1192T>C, p.Ser398Pro; ALS2:p.Glu697Lys
1 disease linked to ALS2 Amyotrophic lateral sclerosis

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