NHP2 Human

NHP2 Ribonucleoprotein Homolog, also known as NHP2, is a protein encoded by the NHP2 gene in humans. It is a member of the H/ACA small nucleolar ribonucleoproteins (snoRNPs) family, which plays a crucial role in the processing and modification of ribosomal RNA (rRNA). The H/ACA snoRNPs are involved in the pseudouridylation of rRNA, a process that stabilizes the rRNA structure and is essential for ribosome biogenesis and function .

The NHP2 gene is located on chromosome 5q35.3 and encodes a protein that is highly conserved across different species, including yeast and humans . The human NHP2 protein consists of 153 amino acids and has a molecular weight of approximately 19.3 kDa . The protein contains an N-terminal His-tag, which is often used in recombinant protein production for purification purposes .

NHP2 is a critical component of the H/ACA snoRNP complex, which includes other proteins such as DKC1, NOLA1, and NOLA3 . This complex is responsible for the isomerization of uridine to pseudouridine in rRNA, a modification that enhances the stability and function of the ribosome . Additionally, NHP2 is involved in the processing and intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme .

Mutations in the NHP2 gene have been associated with Dyskeratosis Congenita, a rare genetic disorder characterized by bone marrow failure, skin abnormalities, and increased cancer risk . The autosomal recessive form of this disease is linked to mutations in the NHP2 gene, highlighting its importance in cellular processes and human health .

Recombinant NHP2 protein is produced using various expression systems, such as E. coli, and is purified using conventional chromatography techniques . The recombinant protein is used in research to study the function and interactions of NHP2 in ribosome biogenesis and telomere maintenance .