Rabbit Atrophin-1 (ATN1) ELISA Kit | ATN1 elisa kit
Rabbit Atrophin-1 (ATN1) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: nucleoplasm; nuclear matrix; perinuclear region of cytoplasm; cytoplasm; nucleus; cell junction
Molecular Function: protein domain specific binding; protein binding; toxin receptor binding; transcription corepressor activity
Biological Process: neuron apoptosis; cell migration; central nervous system development; transcription, DNA-dependent; toxin metabolic process; negative regulation of transcription from RNA polymerase II promoter; maintenance of cell polarity
Disease: Dentatorubral-pallidoluysian Atrophy