Recombinant Human Atrophin-1 (ATN1), Truncated

Uniprot Id

P54259

Target Species

Human

Target Name

ATN1

Target Full Name

Atrophin-1

Target Function

Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation. Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats.

Target Involvement

Dentatorubral-pallidoluysian atrophy (DRPLA)

Target Subcellular Location

Nucleus. Cytoplasm, perinuclear region. Cell junction.

Target Tissue Specificity

Widely expressed in various tissues including heart, lung, kidney, ovary, testis, prostate, placenta, skeletal Low levels in the liver, thymus and leukocytes. In the adult brain, broadly expressed in amygdala, caudate nucleus, corpus callosum, hippocampus

Target Synonyms

ATN1; D12S755E; DRPLAAtrophin-1; Dentatorubral-pallidoluysian atrophy protein

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 7-35 copies to 49-93 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.