Aliases for SHQ1 Gene
External Ids for SHQ1 Gene
Previous GeneCards Identifiers for SHQ1 Gene
SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]
GeneCards Summary for SHQ1 Gene
SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor) is a Protein Coding gene. Diseases associated with SHQ1 include dyskeratosis congenita.
UniProtKB/Swiss-Prot for SHQ1 Gene
Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.