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Protein tyrosine phosphatase non-receptor type 5 is an enzyme that in humans is encoded by the PTPN5 gene. [ 5 ] [ 6 ] Protein tyrosine phosphatase ( PTP ), non-receptor type 5, also known as STEP (STriatal-Enriched protein tyrosine Phosphatase), was the first brain-specific PTP discovered. [ 5 ]
Ser/Thr and Tyr dual-specificity phosphatases are a group of enzymes with both Ser/Thr (EC 3.1.3.16) and tyrosine-specific protein phosphatase (EC 3.1.3.48) activity able to remove the serine/threonine or the tyrosine-bound phosphate group from a wide range of phosphoproteins, including a number of enzymes that have been phosphorylated under ...
Autosomal dominant GTP cyclohydrolase I deficiency; Other names: Autosomal dominant Segawa syndrome (the autosomal recessive form of Segawa syndrome is caused by mutations in a different gene that encodes tyrosine hydroxylase), Dopa-responsive dystonia 5a, Autosomal dominant DYT/PARK-GCH1 (designation in accordance with the Nomenclature of Genetic Movement Disorders maintained by the ...
Receptor-type tyrosine-protein phosphatase kappa is an enzyme that in humans is encoded by the PTPRK gene. [ 5 ] [ 6 ] [ 7 ] PTPRK is also known as PTPkappa and PTPκ. Function
PTPmu tyrosine phosphatase activity is activated by shear stress. [73] Caveolin 1 is a scaffolding protein enriched in endothelial cell junctions that is also linked to shear stress regulated responses. [73] Caveolin 1 is dephosphorylated on tyrosine 14 in response to shear stress and PTPmu is hypothesized to catalyze this reaction. [73]
The frequency of mutations in the cytoplasmic tyrosine phosphatase domain of PTPrho in cancer has been disputed. [20] The PTPrho (PTPRT) promoter was observed to be hypermethylated in colorectal cancer compared to controls, suggesting another mechanism whereby PTPrho function may be reduced in cancer, in this instance by epigenetic silencing.
Tyrosine-protein phosphatase non-receptor type 13 is an enzyme that in humans is encoded by the PTPN13 gene. [ 5 ] [ 6 ] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family.
ZAP70 deficiency, or ZAP70 deficient SCID, [1] is a rare autosomal recessive form of severe combined immunodeficiency (SCID) resulting in a lack of CD8+ T cells. [2] People with this disease lack the capability to fight infections, and it is fatal if untreated.