ATN1 Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Feb 2010]

DRPLA: a protein that interacts with the E3 ubiquitin-protein ligase WWP1 and WWP2. May be involved in the third step of ubiquitin conjugation. Relatively high levels in the brain, ovary, testis and prostate. Lower levels in the liver, thymus and leukocytes. Defects are the cause of the neurodegenerative disorders dentatorubral-pallidoluysian atrophy (DRPLA) and Haw River syndrome (HRS).

Protein type: Ubiquitin conjugating system

Chromosomal Location of Human Ortholog: 12p13.31

Cellular Component: cell junction; cytoplasm; nuclear matrix; nucleoplasm; nucleus; perinuclear region of cytoplasm

Molecular Function: protein binding; protein domain specific binding; transcription corepressor activity

Biological Process: central nervous system development; negative regulation of transcription from RNA polymerase II promoter; neuron apoptosis; transcription, DNA-dependent

Disease: Dentatorubral-pallidoluysian Atrophy