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

External Links

NCBI Gene

IthaScore

Sequence Viewer

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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 PubMed

Created on 2020-10-06 09:06:31, Last reviewed on 2020-10-06 13:33:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2020-10-06 09:06:31	The IthaGenes Curation Team	Created
2	2020-10-06 13:33:14	The IthaGenes Curation Team	Reviewed. Links.

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