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Cancer cells showed moderate cytoplasmic immunoreactivity. A few hepatocellular carcinomas were strongly stained. Most renal cancers and lymphomas were weakly stained or negative.
Cancer tissues showed weak to moderate cytoplasmic staining.
GENE INFORMATION
Gene name
MBTPS2 (HGNC Symbol)
Synonyms
KFSD, S2P
Description
Membrane-bound transcription factor peptidase, site 2 (HGNC Symbol)
Entrez gene summary
This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]