PAK6

Description

The PAK6 (p21 (RAC1) activated kinase 6) is a protein-coding gene located on chromosome 15.

PAK6, encoded by the PAK6 gene, is a member of the Group II PAK family of serine/threonine-protein kinases. It is highly conserved across species and was initially identified as an androgen receptor interacting kinase. The PAK6 gene consists of 16 exons, generating 17 transcripts through alternative splicing. Four protein-coding transcripts result in the production of two proteins with 681 and 636 amino acids. PAK6, like other Group II PAKs, possesses a kinase domain and a GTPase interacting domain. It shares significant sequence similarity with other members of the p21-activated kinase (PAK) family. PAK6 proteins are Rac/Cdc42-associated Ste20-like Ser/Thr protein kinases, characterized by a conserved amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain.

PAK6 is also known as PAK5.

Associated Diseases

• mosaic variegated aneuploidy syndrome
• colorectal cancer
• keratoconus
• schizophrenia
• acroleukopathy, symmetric
• familial progressive hyperpigmentation
• hyperpigmentation with or without hypopigmentation, familial progressive
• Parkinson disease