Primary Identifier | MGI:96055 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 15170 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including phosphotyrosine residue binding activity; protein domain specific binding activity; and protein tyrosine phosphatase activity. Involved in several processes, including epididymis development; negative regulation of cytokine production; and negative regulation of inflammatory response to wounding. Acts upstream of or within several processes, including hemopoiesis; negative regulation of protein phosphorylation; and regulation of lymphocyte activation. Located in cell-cell junction. Part of alpha-beta T cell receptor complex. Is active in cytoplasm. Is expressed in several structures, including central nervous system; liver; retina; and thymus primordium. Orthologous to human PTPN6 (protein tyrosine phosphatase non-receptor type 6). PHENOTYPE: Homozygous mutants are immunodeficient and autoimmune and exhibit neutrophilic skin lesions that disrupt hair follicles and give the motheaten appearance. Alleles vary in severity, with death occurring at 6-9 weeks postnatally due to severe pneumonitis. Mice homozygous for a certain spontaneous allele suffer from progressive retinal degeneration before premature death. [provided by MGI curators] |