GeneID: 306
Names
| 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 |
Description:
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
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- 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
- 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
- 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