GeneID: 393


Common Name: PDE5A-MAD2L1 Type: Intergenic Region
Chromosome: 4 (NC_000004.12) Locus: N/A
HUGO Symbol: PDE5A-MAD2L1 Full Name: N/A
Exons: N/A Introns: N/A

PDE5A (phosphodiesterase 5A) plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. MAD2L1 (mitotic arrest deficient 2 like 1) is required for the execution of the mitotic checkpoint which monitors the process of kinetochore-spindle atttachment and prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. A variant located in the PDE5A-MAD2L1 intergenic region associated with F-cell levels in sickle cell disease (SIT trial).

Synonyms: N/A


External Links

Publications / Origin

  1. Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., J. Hum. Genet. , 56(4), 316-23, 2011
Created on 2020-10-06 09:06:31, Last reviewed on 2020-10-06 13:33:14 (Show full history)

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