GeneID: 303
Names
Common Name: | CHP2-PRKCB | Type: | Gene |
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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
Number of entries/variants: 1
IthaScore
Sequence Viewer
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 PubMed
- 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
A/A | Date | Curator(s) | Comments |
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1 | 2019-10-15 09:40:27 | The IthaGenes Curation Team | Created |