Medical Knowledge Cockpit polyposis syndrome

APC

• Activator protein 2alpha associates with adenomatous polyposis coli/beta-catenin and Inhibits beta-catenin/T-cell factor transcriptional activity in colorectal cancer cells
• Binding of the adenomatous polyposis coli protein to microtubules increases microtubule stability and is regulated by GSK3 beta phosphorylation
• The coiled coil region (amino acids 129-250) of the tumor suppressor protein adenomatous polyposis coli (APC). Its structure and its interaction with chromosome maintenance region 1 (Crm-1)

BMPR1A

• Expression of bone morphogenetic protein receptors type-IA, -IB and -II correlates with tumor grade in human prostate cancer tissues
• Crystal structure of the BMP-2-BRIA ectodomain complex
• Transcriptional mechanisms of bone morphogenetic protein-induced osteoprotegrin gene expression

 

BMPR1A

Somatic tumors

Tumor types germline

gastrointestinal polyps

Cancer Syndrom

juvenile polyposis

Translocation partner

Name

bone morphogenetic protein receptor, type IA

Chromosome banding

10q22.3

Cancer molecular gen.

Rec

Mutation type

Mis, N, F

Other syndrome disease

 

APC

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is alsoinvolved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis.Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease thatusually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designatedthe mutation cluster region (MCR) and result in a truncated protein product. (provided by RefSeq, Jul 2008)

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway

It is alsoinvolved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis.Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease thatusually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designatedthe mutation cluster region (MCR) and result in a truncated protein product. (provided by RefSeq, Jul 2008)

 

• Regulation of actin cytoskeleton
  Homo sapiens (human) one gene

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