In humans, the NPM1 gene is located on the long arm of chromosome 5 (5q35). The gene spans 23 kb and contains 12 exons. Three transcript variants have been described. The longest isoform (294 amino acids long), encoded by transcript variant 1, is the major and the most well studied isoform of Nucleophosmin.

The aim of this literature review is to examine the significance of the nucleophosmin 1 (NPM1) gene in acute myeloid leukaemia (AML). This will include analysis of the structure and normal cellular function of NPM1, the type of mutations commonly ...

2024年12月25日 · NPM1 (Nucleophosmin 1) is a Protein Coding gene. Diseases associated with NPM1 include Acute Myeloid Leukaemia With Myelodysplasia-Related Features and Leukemia, Acute Myeloid. Among its related pathways are Transport of the SLBP independent Mature mRNA and Signaling by ALK fusions and activated point mutants.

2020年10月8日 · NPM1 mutations represent the most common genetic lesion in adult acute myeloid leukemia (AML; about one third of cases), and they act deterministically to cause the aberrant cytoplasmic delocalization of NPM1 mutants.

2021年2月4日 · Mutations of the nucleophosmin (NPM1) gene, encoding for a nucleolar multifunctional protein, occur in approximately one-third of adult acute myeloid leukemia (AML).

2020年10月8日 · NPM1 mutations represent the most common genetic lesion in adult acute myeloid leukemia (AML; about one third of cases), and they act deterministically to cause the aberrant cytoplasmic delocalization of NPM1 mutants.

2022年8月25日 · NPM1 mutations are the most common genetic alteration in acute myeloid leukemia (AML), detected in about 30–35% of adult AML and more than 50% of AML with normal karyotype.

Mutations in the corresponding gene cause a cytoplasmic dislocation of the NPM1 protein. These mutations are unique to acute myeloid leukemia (AML), a disease characterized by clonal expansion, impaired differentiation and the proliferation of myeloid cells in the bone marrow.

2024年12月17日 · NPM1 is the most abundant protein of the nucleolus and its restraint in such subnuclear membrane-less structure relies on both mere affinity for nucleolar components [4] and the...

The NPM1 gene provides instructions for making a protein called nucleophosmin, which is found in a small region inside the nucleus of the cell called the nucleolus. Learn about this gene and related health conditions.