NOP10
Description
The NOP10 (NOP10 ribonucleoprotein) is a protein-coding gene located on chromosome 15.
NOP10 is a protein involved in ribosome biogenesis and telomere maintenance. It is a subunit of the H/ACA small nucleolar ribonucleoprotein (snoRNP) complex, which modifies rRNA by pseudouridylation. NOP10 also interacts with the telomerase holoenzyme complex, which is responsible for maintaining telomere length.
NOP10 is essential for ribosome biogenesis and telomere maintenance. It functions as a component of the H/ACA small nucleolar ribonucleoprotein (snoRNP) complex, which catalyzes pseudouridylation of rRNA. This modification involves the isomerization of uridine, where the ribose is attached to C5 instead of the normal N1. Each rRNA can have up to 100 pseudouridine residues, contributing to the stability of rRNA conformation. Additionally, NOP10 may play a role in the proper processing or intranuclear transport of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
NOP10 is also known as CHINE2, DKCB1, NOLA3, NOP10P, PFBMFT9.
Associated Diseases
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
- Dyskeratosis congenita, autosomal recessive 1
- Dyskeratosis congenita
- Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
