Species Human Entrez 1822 | Human Mouse Ensembl ENSG00000111676 | |
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Aliases ATN1, B37, D12S755E, DRPLA, HRS, NOD, atrophin 1 External IDs OMIM: 607462 MGI: 104725 HomoloGene: 1461 GeneCards: ATN1 | ||
Atrophin-1 is a protein that in humans is encoded by the ATN1 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. The function of Atrophin-1 has not yet been determined. There is evidence provided by studies of Atrophin-1 in animals to suggest it acts as a transcriptional co-repressor. It can be found in the nuclear and cytoplasmic compartments of neurons. It is expressed in nervous tissue.
Contents
Clinical significance
The ATN1 gene has a segment of DNA called the CAG trinucleotide repeat. It is made up of cytosine, adenine, and guanine, and repeats multiple times. The number of CAG repeats in the ATN1 gene in a healthy person will range from six to thirty-five Mutations in ATN1 are associated with a form of trinucleotide repeat disorder known as "dentatorubral-pallidoluysian atrophy" or "dentatorubropallidoluysian atrophy".
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 symptoms of this disorder can credited to the significant reduction of brain and spinal tissue observed in those afflicted with "dentatorubral-pallidoluysian atrophy". There are juvenille-onset and late adult-onsets disorders of "dentatorubral-pallidoluysian atrophy" that experience differing degrees of severity in certain symptoms.
Interactions
ATN1 has been shown to interact with: