" /> RPN1 wt Allele - CISMeF





Preferred Label : RPN1 wt Allele;

NCIt synonyms : Ribophorin I wt Allele; Oligosaccharyltransferase 1 Homolog (S. cerevisiae) Gene; OST1; RBPH1; DKFZp686B16177;

NCIt definition : Human RPN1 wild-type allele is located in the vicinity of 3q21.3 and is approximately 61 kb in length. This allele, which encodes dolichyl-diphosphooligosaccharide-protein glycosyltransferase subunit 1 protein, is involved in the regulation of protein glycosylation. A chromosomal aberration, either t(3;3)(q21;q26) or inv(3)(q21q26), of this gene and the MECOM gene is associated with acute myeloid leukemia.;

NCIt note : For both recombination events the pathological consequences may be the result of aberrant expression of the MECOM gene due to its juxtaposition with the enhancer of the constitutively expressed RPN1 gene. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

GenBank Accession Number : NM_002950;

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16/05/2024


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