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
Publications / Origin
- 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