SETX(redirected from OTTHUMP00000022428)
SETXA 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.
SETX mutations have been linked to ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).
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