Difference between revisions of "Phosphatases and Diseases"
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== Other diseases == | == Other diseases == | ||
| + | |||
| + | ==== [[Phosphatase_Subfamily_MTMR3|MTMR3]]: Inflammatory bowel disease (IBD) ==== | ||
| + | The rs713875 IBD risk polymorphism increases MTMR3 expression. | ||
==== [[Phosphatase_Gene_PDP1|PDP1]]: pyruvate dehydrogenase (PDH) deficiency ==== | ==== [[Phosphatase_Gene_PDP1|PDP1]]: pyruvate dehydrogenase (PDH) deficiency ==== | ||
Revision as of 18:48, 15 September 2015
Cancer
PTEN
PTPN11 (SHP2)
PTPRC (CD45)
DUSP3 (VHR)
DUSP3 is a negative regulator of ERK and JNK pathways in in vitro studies in several cell lines. Though its role is involved in human cancer, its has contradictory roles since it has been alternatively described as having tumor suppressive and oncogenic properties [1].
DUSP26 (MKP8)
DUSP26 (aka MKP8) is a novel p53 phosphatase and inhibits p53 tumor suppressor functions in human neuroblastoma [2].
PPM1D (WIP1)
PPM1D as a frequent target of somatic mutation and as a potential therapeutic target in brainstem gliomas [3].
PTPRZ1
PTPRZ1-MET (ZM) fusion protein induces gliomas through elevated expression and phosphorylation of the MET oncoprotein [4]. The fusion protein is found in human gliomas by high-throughput sequencing.
Parkinson's disease
DNAJC6
See OMIM.
Other diseases
MTMR3: Inflammatory bowel disease (IBD)
The rs713875 IBD risk polymorphism increases MTMR3 expression.
PDP1: pyruvate dehydrogenase (PDH) deficiency
See OMIM.
SBF1: Charcot-Marie-Tooth disease
See OMIM.
PPM1K: maple syrup urine disease
See OMIM.
MTMR14: centronuclear myopathy
See OMIM.
PTPRQ: deafness
See OMIM.
References
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