Nucleolar protein family A member 2 (H/ACA small nucleolar RNPs)
snoRNP protein NHP2
FunctionRequired 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.
Tissue specificityExpressed in brain, colon, heart, kidney, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen, testis and thymus. Also expressed at lower levels in the liver.
Involvement in diseaseDyskeratosis congenita, autosomal recessive, 2
Sequence similaritiesBelongs to the ribosomal protein L7Ae family.
Developmental stageTranscript peaks at G1/S transition.
Cellular localizationNucleus > nucleolus. Nucleus > Cajal body. Also localized to Cajal bodies.