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Proline-serine-threonine phosphatase-interacting protein 1

The PSTPIP1 gene encodes a protein which interacts with several phosphatases and by that is involved in several regulatury proceses of immune reaction and inflammation. Mutations cause autosomal dominant PAPA syndrome and hyperzincemia.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
PSTPIP1
Hyperzincemia and hypercalprotectinemia
PSTPIP1

References:

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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8.
Update: Aug. 14, 2020
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