Tag/Conjugate
Unconjugated
Antigen Description
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]
Synonyms
SHQ1; SHQ1, H/ACA ribonucleoprotein assembly factor; Shq1p; protein SHQ1 homolog; SHQ1 homolog
Citations
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Grozdanov, PN; Fernandez-Fuentes, N; et al. Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. HUMAN MOLECULAR GENETICS 18:4546-4551(2009).
Singh, M; Gonzales, FA; et al. Structure and Functional Studies of the CS Domain of the Essential H/ACA Ribonucleoparticle Assembly Protein SHQ1. JOURNAL OF BIOLOGICAL CHEMISTRY 284:1906-1916(2009).