PSTPIP2
Description
The PSTPIP2 (proline-serine-threonine phosphatase interacting protein 2) is a protein-coding gene located on chromosome 18.
PSTPIP2, or Proline-serine-threonine phosphatase-interacting protein 2, is an enzyme encoded by the PSTPIP2 gene. It belongs to the Pombe Cdc15 homology (PCH) family of proteins and is known to regulate membrane and cytoskeletal dynamics.
PSTPIP2 is primarily expressed in macrophages and their precursors. It acts as an actin bundling protein, playing a crucial role in filopodia formation and macrophage motility.
Deficiency in PSTPIP2 leads to elevated levels of inflammatory mediators in the body. This can manifest as an autoinflammatory disease, such as Lupo Pstpip2 (Pstpip2Lupo/Lupo), characterized by skin necrosis and inflammation of paws and ears. Another mutation, L98P, is associated with chronic multifocal osteomyelitis (cmo) in mice, leading to bone inflammation and deformities.
PSTPIP2 is also known as MAYP.
Associated Diseases
- chilblain lupus
- epidermolytic palmoplantar keratoderma
- diffuse nonepidermolytic palmoplantar keratoderma
- dystrophic epidermolysis bullosa pruriginosa
- hypotrichosis simplex of the scalp
- erythrokeratodermia variabilis
- immunodeficiency 51
- mal de Meleda
- Darier disease
