NHP2
Description
The NHP2 (NHP2 ribonucleoprotein) is a protein-coding gene located on chromosome 5.
NHP2 plays a critical role in ribosome biogenesis and telomere maintenance. It is a core 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. rRNA molecules can contain up to 100 pseudouridine residues, contributing to their structural stability. NHP2 may also be involved in the proper processing and nuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
NHP2 is also known as DKCB2, NHP2P, NOLA2.
Associated Diseases
- Dyskeratosis congenita, autosomal recessive, 2
- Dyskeratosis congenita, autosomal recessive 1
- Dyskeratosis congenita
