GeneID: 306


Common Name: NOL12 Type: Gene
Chromosome: 22 (NC_000022.11) Locus: NM_024313.3 (NOL12)
HUGO Symbol: NOL12 Full Name: nucleolar protein 12
Exons: 6 Introns: 5

This gene encodes an RNA binding protein with diverse cellular roles, including cell proliferation, apoptosis and ribosome biogenesis. Key player in the regulation of RNA metabolism and DNA damage response. Localised in both cytoplasmic and nucleoplasmic compartments. Genetic variance in NOL12 gene associated with acute chest syndrome (ACS) in patients with sickle cell disease. ACS is a form of acute lung injury caused by vaso-occlusion within the pulmonary microvasculature. Etiologies either trigger vaso-occlusion (e.g., infection, asthma, hypoventilation) or are a result of vaso-occlusion (e.g., bone marrow and fat emboli).

Synonyms: MGC3731 , Nop25 , RRP17


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Publications / Origin

  1. Melton CW, Haynes J, Sickle acute lung injury: role of prevention and early aggressive intervention strategies on outcome., Clin. Chest Med., 27(3), 487-502, vii, 2006 PubMed
  2. Birger Y, Goldberg L, Chlon TM, Goldenson B, Muler I, Schiby G, Jacob-Hirsch J, Rechavi G, Crispino JD, Izraeli S, Perturbation of fetal hematopoiesis in a mouse model of Down syndrome's transient myeloproliferative disorder., Blood, 122(6), 988-98, 2013 PubMed
  3. Scott DD, Trahan C, Zindy PJ, Aguilar LC, Delubac MY, Van Nostrand EL, Adivarahan S, Wei KE, Yeo GW, Zenklusen D, Oeffinger M, Nol12 is a multifunctional RNA binding protein at the nexus of RNA and DNA metabolism., Nucleic Acids Res., 45(21), 12509-12528, 2017 PubMed
Created on 2019-10-15 12:37:15, Last reviewed on (Show full history)

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