This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms.
Immunogen Information
Immunogen
Recombinant fusion protein of human AUTS2
Gene ID
26053
Swissprot
Q8WXX7
Synonyms
MRD26FBRSL2
Calculated MW
59kDa
Observed MW
59KDa
Applications
Reactivity
Human,Mouse,Rat
Tested Applications
WB,IF
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000,IF 1:50-1:200
Concentration
1mg/mL
Storage Buffer
PBS with 0.01% thiomersal,50% glycerol,pH7.3.
Storage Instructions
Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.
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