Molecular Characteristics
ATXN2L is a homolog of ATX2 and appears to play a role in RNA surveillance through its RNA-binding Lsm and LsmAD motifs and PABPC1-binding PAM2 motif. Knockout studies of atx-2 reverses the slow growth induced by dietary restriction. This effect is thought to be caused by the loss of mTOR inhibition.
Mutations and pathophysiology
ATXN2L is located at 16p11.2. To date, there is only one suggested pathogenic variant in ATXN2L [NM_148414.2:c.3017C>T;p.(Pro1006Leu)] reported by Alzahrani et al.
ATXN2L