Product overview Description Anti-ATN1 rabbit polyclonal antibody
Applications ELISA, IHC
Immunogen Synthetic peptide of human ATN1
Reactivity Human, Mouse, Rat
Content 0.9 mg/ml
Host species Rabbit
Ig class Immunogen-specific rabbit IgG
Purification Antigen affinity purification
Target information Symbol ATN1
Full name atrophin 1
Synonyms B37; HRS; NOD; DRPLA; D12S755E
Swissprot P54259
Target Background Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein.