PTPRCAP
Description
The PTPRCAP (protein tyrosine phosphatase receptor type C associated protein) is a protein-coding gene located on chromosome 11.
PTPRCAP (Protein tyrosine phosphatase receptor type C-associated protein) is an enzyme encoded by the PTPRCAP gene in humans. This protein is a transmembrane phosphoprotein specifically associated with the tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC is likely essential for the stable expression of PTPRCAP.
PTPRCAP is also known as CD45-AP, LPAP.
Associated Diseases
- immune deficiency, familial variable
- hyper-IgM syndrome type 3
- severe combined immunodeficiency due to CARD11 deficiency
- hyper-IgM syndrome type 2
- hyper-IgM syndrome type 5
- immunodeficiency, common variable, 14
- severe combined immunodeficiency due to CTPS1 deficiency
- reticular dysgenesis
- Wiskott-Aldrich syndrome
- autoimmune lymphoproliferative syndrome type 2B
- immunodeficiency 75
