PAK1 Chromosome 11
P21 (RAC1) activated kinase 1
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What This Gene Does
This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]
Associated Conditions (7)
Intellectual developmental disorder with macrocephaly
seizures
and speech delay
PAK1-related disorder
Inborn genetic diseases
PAK1-related neurodevelopmental disorders
See cases
Key Variants
RS2137081902
Conflicting classifications of pathogenicity
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS1483962098
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS1565583382
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS1565638316
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS1942648391
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS1949512290
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS2136123010
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS2137081192
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS2137081530
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS2137082609
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS2539862950
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
RS2540107719
Likely pathogenic
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2137081902 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS1483962098 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS1565583382 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS1565638316 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS1942648391 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS1949512290 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS2136123010 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS2137081192 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS2137081530 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS2137082609 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS2539862950 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS2540107719 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS2540813559 | Health Risk | Likely pathogenic | PAK1-related disorder, PAK1-related disorder |
| RS2540830069 | Health Risk | Likely pathogenic | PAK1-related disorder, PAK1-related disorder |
| RS2540830299 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS769079461 | Health Risk | Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS972319037 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1949519149 | Health Risk | Pathogenic | PAK1-related neurodevelopmental disorders, PAK1-related disorder, Intellectual developmental disorder with macrocephaly |
| RS2137081759 | Health Risk | Pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS1591695781 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
| RS2137082293 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay |