GeneID: 232



Names

Common Name: PAK2 Type: Gene
Chromosome: 3 (NC_000003.12) Locus: NG_009227.1 (PAK2)
HUGO Symbol: PAK2 Full Name: p21 (RAC1) activated kinase 2
Exons: 15 Introns: 14

Description:
The p21 activated kinases (PAK) are critical proteins that link Rho GTPases to cytoskeleton re-organization and nuclear signalling. The PAK proteins are a family of serine/threonine kinases that serve as downstream effectors of the small GTPases, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. A polymorphism in this gene associated with fetal haemoglobin levels in patients with sickle cell disease.

Synonyms: PAK65 , PAKgamma

Comments:
N/A

Number of entries/variants: 1

IthaScore

Sequence Viewer

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Publications / Origin

  1. Shaikho EM, Farrell JJ, Alsultan A, Sebastiani P, Steinberg MH, Genetic Determinants of HbF in Saudi Arabian and African Benin Haplotype Sickle Cell Anemia., Am. J. Hematol. , 2017 PubMed
Created on 2017-07-10 01:09:20, Last reviewed on (Show full history)


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