NHP2L1 Human

NHP2, also known as NHP2 Ribonucleoprotein, is a protein-coding gene that plays a crucial role in ribosome biogenesis and telomere maintenance. It is part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which is involved in the pseudouridylation of rRNA. This process involves the isomerization of uridine, allowing the ribose to attach to C5 instead of the normal N1, which helps stabilize the conformation of rRNAs .

The NHP2 gene is located on chromosome 5 and is associated with several aliases, including NOLA2, H/ACA Ribonucleoprotein Complex Subunit 2, and SnoRNP Protein NHP2 . The gene is expressed in various tissues and is essential for the proper functioning of ribosomes and telomerase.

NHP2 is required for the correct processing and intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme . The H/ACA snoRNP complex, which includes NHP2, catalyzes the pseudouridylation of rRNA, a modification that is crucial for ribosome stability and function. Each rRNA can contain up to 100 pseudouridine residues, which contribute to the structural integrity of the ribosome .

Mutations in the NHP2 gene have been associated with Dyskeratosis Congenita, Autosomal Recessive 2, a rare genetic disorder characterized by bone marrow failure, skin abnormalities, and increased cancer risk . The gene’s involvement in telomere maintenance also links it to various age-related diseases and conditions.

Recombinant human NHP2 protein is used in various research applications to study its function and role in ribosome biogenesis and telomere maintenance. The recombinant protein is typically produced in bacterial or mammalian expression systems and purified for use in biochemical assays and structural studies .