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Few squamous cell carcinomas and urothelial cancers showed moderate cytoplasmic and/or nuclear staining. Weak to moderate cytoplasmic or membranous positivity was observed in few liver, colorectal, stomach, ovarian, pancreatic and prostate cancers. Remaining cancer tissues were negative.
GENE INFORMATION
Gene name
BBS12 (HGNC Symbol)
Synonyms
C4orf24, FLJ35630, FLJ41559
Description
Bardet-Biedl syndrome 12 (HGNC Symbol)
Entrez gene summary
The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]