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Weak to moderate cytoplasmic immunoreactivity was observed in few duct carcinomas of breast along with rare high grade urothelial cancers, malignant melanoma and adenocarcinoma of lung. Remaining malignant tissues were negative.
GENE INFORMATION
Gene name
BBIP1 (HGNC Symbol)
Synonyms
bA348N5.3, BBIP10, BBS18, NCRNA00081
Description
BBSome interacting protein 1 (HGNC Symbol)
Entrez gene summary
This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]