ATN1

Atrophin-1 is a is_associated_with::protein that in humans is encoded by the ATN1 is_associated_with::gene. It is expressed in is_associated_with::nervous tissue.

Function
Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion of a trinucleotide repeat 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.

Clinical significance
Mutations in ATN1 are associated with a form of is_associated_with::trinucleotide repeat disorder known as "is_associated_with::dentatorubral-pallidoluysian atrophy" or "dentatorubropallidoluysian atrophy".

Interactions
ATN1 has been shown to interact with:
 * is_associated_with::BAIAP2,
 * is_associated_with::MAGI1,
 * is_associated_with::MAGI2,
 * is_associated_with::RERE, and
 * is_associated_with::WWP2.