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Cancer tissues demonstrated weak to moderate cytoplasmic and membranous staining. Strong staining was seen in a few cases of ovarian, urothelial and liver cancers.
Most cancers showed moderate cytoplasmic positivity occasionally combined with nuclear positivity. Several cases of colon, breast, thyroid and ovarian cancers, gliomas and lymphomas showed strong immunoreactivity.
GENE INFORMATION
Gene name
SPTLC1 (HGNC Symbol)
Synonyms
hLCB1, HSAN1, HSN1, LCB1, SPTI
Description
Serine palmitoyltransferase, long chain base subunit 1 (HGNC Symbol)
Entrez gene summary
This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]