AXIN mutants destabilize the destruction complex

Stable Identifier
Reaction [transition]
Homo sapiens
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Alterations in AXIN1 have been detected in a number of different cancers including liver and colorectal cancer and medullablastoma, among others (reviewed in Salahshor and Woodgett, 2005). Missense and nonsense mutations that disrupt or remove protein-protein interaction domains are common, and AXIN variants in cancers tend to disrupt the formation of a functional destruction complex (Satoh et al, 2000; Taniguchi et al, 2002; Webster et al, 2000; Shimizu et al, 2002).
Literature References
PubMed ID Title Journal Year
10862053 Sequence variants of the axin gene in breast, colon, and other cancers: an analysis of mutations that interfere with GSK3 binding

Davis, E, Dale, TC, Rozycka, M, Webster, MT, Wooster, R, Smalley, M, Sara, E, Young, N

Genes Chromosomes Cancer 2000
15735151 The links between axin and carcinogenesis

Salahshor, S, Woodgett, JR

J. Clin. Pathol. 2005
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
11746989 Frequent alterations in the Wnt signaling pathway in colorectal cancer with microsatellite instability

Kodama, S, Fujimori, M, Ikeda, S, Nakahara, M, Okajima, M, Asahara, T, Shimizu, Y

Genes Chromosomes Cancer 2002
12101426 Mutational spectrum of beta-catenin, AXIN1, and AXIN2 in hepatocellular carcinomas and hepatoblastomas

Roche, PC, Ross, JA, Taniguchi, K, Aderca, IN, Smith, DI, Roberts, LR, Qian, C, Nagorney, DM, Burgart, LJ, Liu, W, Dong, X, Murphy, LM

Oncogene 2002
Normal reaction
Functional status

Decreased transcript level and loss of function of truncation and missense AXIN mutants [cytosol]

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
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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