SETX

(redirected from senataxin)

SETX

A gene on chromosome 9q34 that encodes a protein homolous to fungal Sen1p protein which has RNA helicase activity, and which is thought to be involved in RNA and DNA processing and repairing breaks in double-stranded DNA caused by oxidative damage.

Molecular pathology
SETX mutations have been linked to ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).
References in periodicals archive ?
The focus of this ERC proposal is: (i) to determine the mechanism of action and high-resolution structure of the BRCA2 tumour suppressor, and to provide a detailed picture of the interplay between BRCA2, PALB2, RAD51AP1 and the RAD51 paralogs, in terms of RAD51 filament assembly, using biochemical, electron microscopic and cell biological approaches, (ii) to determine the biological role of a unique structure-selective tri-nuclease complex (SLX1-SLX4-MUS81-EME1-XPF-ERCC1), with particular emphasis on its roles in DNA crosslink repair and Fanconi anemia, and (iii) to understand the actions of Senataxin, which is defective in AOA2, in protecting against genome instability in neuronal cells.