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FLASH GENE

Symbol

PTPN6

contributors: mct/npt/pgu - updated : 10-04-2013

HGNC name	protein tyrosine phosphatase, non-receptor type 6
HGNC id	9658

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   overexpressed in severe congenital neutropenia tumoral     --low   by aberrant methylation in leukemias/lymphomas constitutional     --low   in multiple sclerosis (MS)patients with, heightened STAT6 phosphorylation, and an enhanced state of activation relevant to the mechanisms of inflammatory demyelination , and in over a third of MS subjects, abnormally high promoter methylation constitutional       loss of function inactivation contributes to high NaCl-induced increase in NFAT5 transactivating activity constitutional     --other   defect in transcriptional regulation of the hematopoietic PTPN6 appears to be involved in the pathogenesis of certain subsets of the heterogeneous group of neutrophilic dermatoses

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	of MS, low expression in serum due, in over a third of MS subjects, to abnormally high promoter methylation
Therapy target
	System Type Disorder Pubmed cancer     therapeutic target for cancer treatment

ANIMAL & CELL MODELS