SHQ1
Description
The SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor) is a protein-coding gene located on chromosome 3.
SHQ1 is a protein involved in the rRNA processing pathway, specifically in the production of H/ACA box snoRNAs (small nucleolar RNAs). These snoRNAs are responsible for pseudouridylation, a modification of pre-rRNA. Depletion of SHQ1 leads to decreased levels of various H/ACA box snoRNAs and certain pre-rRNA intermediates. SHQ1 is thought to play a role in the stabilization and/or production of H/ACA box snoRNAs and may be involved in the initial steps of the biogenesis of H/ACA box snoRNPs (snoRNAs complexed with proteins) along with Naf1p. While SHQ1 associates with certain snoRNP proteins during maturation, it shows very little association with the mature snoRNP complex. The exact function of SHQ1 in the overall rRNA processing pathway remains to be fully elucidated.
SHQ1 is also known as DYT35, GRIM-1, NEDDS, Shq1p.
Associated Diseases
- Early-onset generalized limb-onset dystonia
- Neurodevelopmental disorder with dystonia and seizures
- Dystonia 35, childhood-onset
