Aliases for NHP2 Gene
External Ids for NHP2 Gene
Previous HGNC Symbols for NHP2 Gene
Previous GeneCards Identifiers for NHP2 Gene
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
GeneCards Summary for NHP2 Gene
NHP2 (NHP2 Ribonucleoprotein) is a Protein Coding gene. Diseases associated with NHP2 include Dyskeratosis Congenita, Autosomal Recessive 2 and Dyskeratosis Congenita, Autosomal Recessive 1. Among its related pathways are Chromosome Maintenance and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include snoRNA binding. An important paralog of this gene is RPL7A.
UniProtKB/Swiss-Prot Summary for NHP2 Gene
Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.