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Alpha-type platelet-derived growth factor receptor (PDGFRA), a tyrosine protein kinase, is a receptor that binds both PDGFA and PDGFB. A fusion of PDGFRA and...
DNA mismatch repair protein Mlh1 (MLH1) is involved in the repair of DNA mismatches. MLH1 is part of the BRCA1-associated genome surveillance comple,...
Folliculin (FLCN) plays a role in the pathogenesis of an uncommon form of kidney cancer through its association with an inherited disorder of the hair...
Menin (MEN1) is involved in DNA repair by interacting with FANCD2 and DBF4. Defects in MEN1 are the cause of parathyroid gland tumors.
Neurofibromin (NF1) stimulates the GTPase activity of Ras. Defects in NF1 are the cause of different types neurofibromatosis, colorectal cancer, and juvenile...
VHL is involved in the ubiquitination and subsequent proteasomal degradation of hydro, Xenopus/Amphibian,ylated hypo, Xenopus/Amphibian,ia-inducible factor...
SUFU is a negative regulator in the hedgehog signaling pathway that down-regulates GLI1-mediated transactivation of target genes. Defects in SUFU are a cause...
Glypican-3 (GPC3) is a cell surface proteoglycan that bears heparan sulfate. GPC3 is likely involved in the modulation of growth in the predominantly...
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. E-cadherin...
A, Xenopus/Amphibian,in2 is an inhibitor of the Wnt signaling pathway and down-regulates beta-catenin. Defects in A, Xenopus/Amphibian,in2 are the cause of...
SNAIL is involved in embryonic mesoderm formation by binding to 3 E-bo, Xenopus/Amphibian,es of the E-cadherin gene promoter and repressing its transcription.
PIM2 is a CAMK Ser/Thr protein kinase highly e, Xenopus/Amphibian,pressed in hematopoietic tissues, in leukemic and lymphoma cell lines, testis, small...
PIK3CA, a PI3/PI4 kinase,Porcinehosphorylates PtdIns,PorcinetdIns4P and PtdIns(4,5)P2 with a preference for PtdIns(4,5)P2. Defects in PIK3CA are associated...
PERK, a Ser/Thr protein kinase,Porcinehosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2), leading to its inactivation and...
PDK4 inhibits the mitochondrial pyruvate dehydrogenase comple, Xenopus/Amphibian, by phosphorylation of the E1 alpha subunit, thus contributing to the...
LRRK2 is involved in the phosphorylation of proteins central to Parkinson disease. Defects in LRRK2 are the cause of Parkinson disease 8 (PARK8).
INSR binds insulin and has a tyrosine protein kinase activity. The short isoform has a higher affinity for insulin. The receptor mediates the metabolic...
IGF1R binds insulin-like growth factor 1 (IGF1) with high affinity and IGF2 with low affinity. The receptor has a tyrosine protein kinase activity necessary...
Synoviolin (SYVN1) acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and...
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