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Few cases of gliomas, hepatocellular carcinomas, ovarian and endometrial cancers along with several cases of prostate cancers, melanomas showed moderate granular cytoplasmic staining. Thyroid cancers along with a single case each of head and neck, melanomas, prostate, urothelial and endometrial cancers displayed strong positivity. Remaining cancer tissues were weakly stained or negative.
Cancer cells showed weak to moderate cytoplasmic immunoreactivity in most cases. Staining pattern was granular. A few cases of prostate, endometrial and thyroid cancers showed strong staining. Several lymphomas as well several cases of lung and urothelial cancers were negative.
This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]
