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C9ORF72 has a domain whith polymorphic hexanucleotide repeat (GGGGCC). The C9ORF72-hexanucleotide repeat expansions have been recently identified as genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). The C9ORF72 repeat expansions may indicate a worse prognosis in ALS. Human C9ORF72 has some isoforms with MW 54-60 kDa and 25-30 kDa. Mouse C9orf72 has some isoforms with MW 50-60 kDa and 35 kDa. This antibody detects the N-terminal of C9orf72.