PAK2 Chromosome 3

P21 (RAC1) activated kinase 2

2 variants 2 Health Risk

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What This Gene Does

The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, 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. [provided by RefSeq, Jul 2008]

Associated Conditions (2)

Knobloch syndrome 2

Knobloch syndrome

Key Variants

RS2474001104

Likely pathogenic

Knobloch syndrome 2, Knobloch syndrome 2

Health Risk

RS2108773003

Pathogenic

Knobloch syndrome, Knobloch syndrome

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS2474001104	Health Risk	Likely pathogenic	Knobloch syndrome 2, Knobloch syndrome 2
RS2108773003	Health Risk	Pathogenic	Knobloch syndrome, Knobloch syndrome