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Occasional cases of breast, endometrial, thyroid, lung and liver cancers showed moderate cytoplasmic and occasional membranous positivity. Several cases of ovarian cancers showed moderate to strong positivity. Remaining cancer cells were negative.
A few cases of carcinoids, colorectal and liver cancers showed moderate to strong cytoplasmic immunoreactivity. Remaining cancer cells were negative.
GENE INFORMATION
Gene name
RTTN (HGNC Symbol)
Synonyms
DKFZP434G145
Description
Rotatin (HGNC Symbol)
Entrez gene summary
This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]
SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
