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Indian aplastic anemia patients did not have NHP2 mutations.
Effects of dyskeratosis congenita mutations in NHP2 on assembly of H/ACA pre-RNPs
NOLA2 expression in patients with squamous cell lung cancer increased by 70% which makes it a highly informative marker of squamous cell lung cancer
The analysis of two other proteins, NHP2 and GAR1, that together with dyskerin and NOP10 are key components of telomerase and small nucleolar ribonucleoprotein (snoRNP) complexes, is described.
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.
H/ACA ribonucleoprotein complex subunit 2
, NHP2 ribonucleoprotein homolog
, NHP2-like protein
, nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)
, snoRNP protein NHP2
, H/ACA small nucleolar RNPs
, nucleolar protein family A member 2
, nucleolar protein family A, member 2