Anti-FMR1polyG Antibody, clone 9FM-1B7

Descrição detalhada : Fragile X-associated Tremor/Ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by an elevated CGG-repeat expansions (55-200) in the 5' UTR of the fragile-X mental retardation 1 gene FMR1 (also known as FRAXA, POF1; Gene ID 2332) on the X-chromosome. The CGG repeat expansion in FXTAS triggers repeat-associated non-ATG-initiated translation (RAN or RANT), also known as repeat-associated non-AUG-initiated translation, within the 5'UTR of FMR1 mRNA, resulting in the production of fusion proteins (FMR1polyG) that contain N-terminal polyglycine fused to either C-terminal FMR1 in-frame sequence or one of two FMR1 frame-shift sequences. Immunohistochemical analysis of FXTAS brain tissues reveals FMR1polyG-positive aggregates that closely resemble neuronal intranuclear inclusions seen in polyglutamine diseases and other protein-mediated neurodegenerative disorders. Much larger expansions of the same repeat cause fragile X syndrome (FRAX), the most common inherited form of mental retardation, by silencing FMR1 transcription.
Sinónimos : FMR1polyG, FMRpolyG, FMR1 RANT, FMR1 repeat-associated non-ATG-initiated translation, FMR1 repeat-associated non-AUG-initiated translation, Fragile X mental retardation protein 1 gene RANT
Armazenamento : -20°C
Embalagem : 1X1EA