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Most cancer tissues displayed moderate cytoplasmic staining. Several cases of lymphoma with rare cases of malignant glioma, ovarian, lung and pancreatic cancer displayed strong cytoplasmic staining. Several cases of squamous cell carcinoma, testis, renal and stomach cancer were negative.
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]