SETX

(redirected from bA479K20.2)

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).