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c16orf57

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Official Full Name
chromosome 16 open reading frame 57
Background
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.
Synonyms
C16ORF57; chromosome 16 open reading frame 57; UPF0406 protein C16orf57; FLJ13154; HVSL motif containing 1; HVSL1; poikiloderma with neutropenia; PN