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Few cases of breast cancers along with rare cases of endometrial cancers showed strong cytoplasmic staining. Several cases of skin and urothelial cancers along with occasional cases of embryonal testis cancers and squamous cell carcinoma of lung displayed moderate to strong cytoplasmic and membranous positivity. Remaining cancer tissues were weakly stained or negative.
Moderate to strong membranous and cytoplasmic positivity was observed in most embryonal testicular cancers and skin cancers as well as cases of squamous cell carcinomas, endometrial, breast and urothelial cancers. Remaining cancer tissues were in general negative.
GENE INFORMATION
Gene name
GJA1 (HGNC Symbol)
Synonyms
CX43, GJAL, ODD, ODDD, ODOD, SDTY3
Description
Gap junction protein, alpha 1, 43kDa (HGNC Symbol)
Entrez gene summary
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]