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A few cases of malignant melanomas exhibited moderate to strong cytoplasmic immunoreactivity while a few cases of ovarian, breast and cervical cancers displayed weak to moderate positivity. Remaining malignant cells were generally negative.
GENE INFORMATION
Gene name
USB1 (HGNC Symbol)
Synonyms
C16orf57, FLJ13154, HVSL1, Mpn1
Description
U6 snRNA biogenesis 1 (HGNC Symbol)
Entrez gene summary
This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
