GeneID: 303



Names

Common Name: CHP2-PRKCB Type: Gene
Chromosome: 16 (NC_000016.10) Locus: N/A
HUGO Symbol: CHP2-PRKCB Full Name: N/A
Exons: N/A Introns: N/A

Description:
CHP2 (calcineurin like EF-hand protein 2) encodes for a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. PRKCB (protein kinase C beta) encodes a member of the family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. Both genes are involved in diverse cellular signaling pathways. Genetic variance in the CHP2-PRKCB intergenic region 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: N/A

Comments:
N/A

External Links

Sequence Viewer

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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. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
Created on 2019-10-15 09:40:27, Last reviewed on (Show full history)


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