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Mucin is a high M.W. (1,000 kDa) glycoprotein, expressed by mucus cells of the gastric epithelium and by goblet cells of the fetal, precancerous and cancerous colon, but not by those of the normal colon. It also appears in other epithelial tissues, which are embryologically derived from the foregut (epigastric and bronchial epithelium) and in Müller ducts (mucus cells of the endocervix and urethral epithelium near the prostatic utriculus). The expression of MUC5AC has been fre

Fragile X syndrome is the most frequent form of inherited mental retardation and is the result of transcriptional silencing of the FMR1 gene on the X chromosome. The FMR1 gene contains a distinct CpG dinucleotide repeat located in the 5' untranslated region of the gene. In fragile X syndrome this tandem repeat is substantially amplified and subjected to extensive methylation and enhanced transcriptional silencing. The FMR1 protein (or FMRP) is an RNA-binding protein that associates with pol

XRCC1 is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. In testis XRC

This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. [provided

GATA4 is a 46 kDa member of the GATA family of zinc finger containing transcription factors that is involved in the development of cardiac hypertrophy and remodeling, and plays a critical role in regulating basal and agonist or stress induced gene expression in cardiac and smooth muscle cell types. GATA4 contains a conserved MAPK phosphorylation site at serine 105 within the transcriptional activation domain. Serine 105 of GATA4 is phosphorylated in response to agonist stimulation through M

Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B.$nInvolvement in disease:Defects in AXIN2 are involved in colorectal cancer (CRC). They appear to be specifically associated with defective mismatch repair.$nDefects in AXIN2 are the cause of oligodontia-colorectal cancer syndrome (ODCRCS). Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable type