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RT-qPCR: reverse transcription-quantitative polymerase chain reaction; ATXN1: Ataxin 1; miR: microRNA.
In two cases with FA showing an AD inheritance pattern, ataxin I gene mutation was found, while in two other cases, CACNAIA gene mutation was found.
CAG encodes glutamine, and these expanded CAG triplet repeats result in expanded polyglutamine protein, termed ataxin that produce toxic gain of function with autosomal dominant inheritance (4).
This mutation leads to the overexpression of mutant ataxin 1 (ATXN1) protein that has an expanded polyglutamine.
Several genetic characteristics have specifically been implicated in PBC etiology in the Japanese population, including the HLA DRB1* 08 : 03-DQB1* 06: 01 haplotype and single nucleotide polymorphisms (SNPs) in the cytotoxic T-lymphocyte-associated protein 4 and ataxin 2bindingprotein 1 genes [5-7].