Primary Identifier | MGI:97810 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 19264 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including heparan sulfate proteoglycan binding activity; heparin binding activity; and protein tyrosine phosphatase activity. Involved in several processes, including lymphocyte differentiation; regulation of macromolecule metabolic process; and regulation of signal transduction. Acts upstream of or within several processes, including T cell activation; positive regulation of lymphocyte activation; and regulation of protein phosphorylation. Located in external side of plasma membrane; focal adhesion; and membrane raft. Is expressed in several structures, including alimentary system; cardiovascular system; hemolymphoid system; placenta; and skin. Used to study Alzheimer's disease and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in multiple sclerosis; primary immunodeficiency disease; and severe combined immunodeficiency. Orthologous to human PTPRC (protein tyrosine phosphatase receptor type C). PHENOTYPE: Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death. [provided by MGI curators] |