Deletions in the AXIN1 gene prevent expression of AXIN1 protein

Stable Identifier
Reaction [transition]
Homo sapiens
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The SNU475 and Alexander hepatocellular carcinoma cells lines carries genomic deletions in the AXIN1 gene, and AXIN1 transcript is not detectable by RT-PCR in the SNU475 line. Both SNU475 and Alexander cells show enhanced nuclear localization of beta-catenin compared to WT cells and increased transcriptional activity as assessed by a TCF-dependent reporter gene, indicating aberrant activation of WNT signaling in the absence of functional AXIN1 protein (Satoh et al, 2000).

Literature References
PubMed ID Title Journal Year
10700176 AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1

Miwa, N, Tokino, T, Furukawa, Y, Fujita, M, Daigo, Y, Nishiwaki, T, Nakamura, Y, Kato, T, Satoh, S, Kawasoe, T, Yamaoka, Y, Murata, M, Sasaki, Y, Ishiguro, H, Shimano, T, Imaoka, S

Nat. Genet. 2000
Normal reaction
Functional status

Decreased transcript level of defective AXIN1 gene [nucleoplasm]

Name Identifier Synonyms
hepatocellular carcinoma DOID:684 adult Hepatoma, adult primary Liver carcinoma, Liver carcinoma, Hepatocellular carcinoma (morphologic abnormality), primary carcinoma of liver (disorder), hepatoma, Hepatoma, adult primary hepatocellular carcinoma, primary carcinoma of the liver cells, Hepatocellular carcinoma (clinical), Liver carcinoma, HCC, carcinoma of liver, specified as primary
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