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Protein Coding Gene : Ptpn6 protein tyrosine phosphatase, non-receptor type 6

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 7.0.0)

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 signal transduction; 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]
  • synonyms:
  • Ptpn6,
  • MGD-MRK-10672,
  • Spin,
  • Hcph,
  • SHP-1,
  • hcp,
  • motheaten,
  • hemopoietic cell phosphatase,
  • protein tyrosine phosphatase, non-receptor type 6,
  • MGD-MRK-12181,
  • me,
  • Ptp1C

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