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TP53

Cancer Gene Census     No results

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TP53

Somatic tumors
breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types
Tumor types germline
breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types
Cancer Syndrom
Li-Fraumeni syndrome
Translocation partner
NTRK1
Name
tumor protein p53
Chromosome banding
17p13
Cancer molecular gen.
Rec
Mutation type
Mis, N, F, T
Other syndrome disease
Definition     No results

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NPC1

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediatesintracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted tohave a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - thelast loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomalcompartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Picktype C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation ofcholesterol and glycosphingolipids in late endosomal/lysosomal compartments.(provided by RefSeq, Aug 2009)

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediatesintracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain

It is predicted tohave a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - thelast loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomalcompartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Picktype C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation ofcholesterol and glycosphingolipids in late endosomal/lysosomal compartments.(provided by RefSeq, Aug 2009)

Pathways     No results

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  • p53 signaling pathway
    Homo sapiens (human) one gene
  • Cell cycle
    Homo sapiens (human) one gene
  • Stabilization of p53
    species not specified one gene
  • Transcriptional activation of cell cycle inhibitor p21
    species not specified one gene
Clinical Trials     No results

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