NSA2

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Description

The NSA2 (NSA2 ribosome biogenesis factor) is a protein-coding gene located on chromosome 5.

NSA2 is involved in the assembly of the 60S ribosomal subunit, a crucial component of protein synthesis. It might also contribute to ensuring the quality of newly forming 60S ribosomal subunits before they are fully assembled.

NSA2 is also known as CDK105, HCL-G1, HCLG1, HUSSY-29, HUSSY29, TINP1.

Associated Diseases

• glycoprotein storage disease
• neuronal ceroid lipofuscinosis 1
• hemoglobin H disease
• hemoglobin C-beta-thalassemia syndrome
• combined immunodeficiency due to OX40 deficiency
• familial isolated congenital asplenia
• dominant beta-thalassemia
• Lipedema
• hemolytic anemia due to diphosphoglycerate mutase deficiency
• hereditary neutrophilia
• hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
• erythroleukemia, familial, susceptibility to
• lymphatic malformation 8
• beta-thalassemia-X-linked thrombocytopenia syndrome
• hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• cryohydrocytosis
• thrombocytopenia, anemia, and myelofibrosis