atrophin-1; dentatorubral-pallidoluysian atrophy protein (ATN1, D12S755E, DRPLA)

Function

• interacts with BAIAP2, WWP1, WWP2, WWP3 & RERE

Expression

• relatively high levels in brain, ovary, testis & prostate
• lower levels in the liver, thymus & leukocytes

Pathology

• CAG trinucleotide expansion in atrophin-1 gene associated with dentatorubral pallidoluysian atrophy

Polymorphism

• poly-Gln region of ATN1 is highly polymorphic (7-23 repeats) in the normal population & is expanded to about 49-75 repeats in patients with dentatorubral pallidoluysian atrophy
• longer expansions result in earlier onset & more severe clinical manifestations

Laboratory

• ATN1 gene CAG repeats

More general terms

• phosphoprotein

Additional terms

• dentatorubral-pallidoluysian atrophy (DRPLA)

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1822
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1822
• OMIM: https://mirror.omim.org/entry/125370
• OMIM: https://mirror.omim.org/entry/607462
• UniProt: http://www.uniprot.org/uniprot/P54259.html