GeneID: 393
Names
| 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 |
Description:
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
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- 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