Prolin-Serine-Threonin-Phosphatase-interagierendes Protein 1
Das PSTPIP1-Gen kodiert ein Protein, welches mit verschiedenen Phosphatasen interagiert und damit verschiedene immunologische Prozesse reguliert. Mutationen führen zu autosomalem PAPA-Syndrom und Hyperzinkämie.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Spencer S et al. (1997) PSTPIP: a tyrosine phosphorylated cleavage furrow-associated protein that is a substrate for a PEST tyrosine phosphatase.
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2. |
Li J et al. (1998) A cdc15-like adaptor protein (CD2BP1) interacts with the CD2 cytoplasmic domain and regulates CD2-triggered adhesion.
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3. |
Yeon HB et al. (2000) Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q.
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4. |
Cong F et al. (2000) Cytoskeletal protein PSTPIP1 directs the PEST-type protein tyrosine phosphatase to the c-Abl kinase to mediate Abl dephosphorylation.
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5. |
Wise CA et al. (2002) Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.
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6. |
Shoham NG et al. (2003) Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.
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7. |
Yu JW et al. (2007) Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.
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Update: 14. August 2020