SETX

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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 ?
Juvenile-Onset Motor Neuron Disease with Dominant Inheritance and No Bulbar Involvement (ALS4).
Autosomal dominant inheritance with mutations mapped to chromosome 9p34 in the senataxin (SETX) gene causes ALS4. The protein senataxin has DNA and RNA helicase activity, and it plays a role in DNA and RNA cellular regulation, with disruption leading to neurodegeneration [114].
Hecht, "Identification of Candida albicans ALS2 and ALS4 and localization of Als proteins to the fungal cell surface," Journal of Bacteriology, vol.
a12; als4; daar2; daargelaten dat2; hoewel2; in afwachting dat2; in de hoop dat/te2; in de overtuiging dat2; in de veronderstelling dat2; in de wetenschap dat2; in zover(re) (dat)2; indien ...
als4: "if" [EXO, 0_00, -p-c, f_%SV] 'Als je mijn mening dan toch wil weten, Jan wil (weer) gelijk hebben.' ('If you really want to know my opinion, John wants to be fight once again.')