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Several cases of melanomas, gliomas breast, endometrial, skin and pancreatic cancers showed moderate cytoplasmic staining. Remaining cancer tissues were weakly stained or negative.
GENE INFORMATION
Gene name
ANO3 (HGNC Symbol)
Synonyms
C11orf25, DYT23, GENX-3947, TMEM16C
Description
Anoctamin 3 (HGNC Symbol)
Entrez gene summary
The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
