USB1 Gene

The USB1 gene (USB1 stands for: "U6 SnRNA Biogenesis Phosphodiesterase 1") is a protein coding gene located on chromosome 16q21. Alternatively spliced transcript variants encoding different isoforms have been identified for the USB1 gene.

The USB1 gene encodes a protein (U6 SnRNA Biogenesis Phosphodiesterase 1) with multiple conserved domains, but its exact function is unknown. Mutations in this gene are associated with the clinical picture of "poikiloderma with neutropenia", which has a phenotypic overlap with Rothmund-Thomson syndrome (RTS) (mutations in the RECQL4 gene).

The U6 SnRNA biogenesis phosphodiesterase 1 is thought to interact with the RECQL4 protein via SMAD4 proteins, which explains the partial clinical overlap between poikiloderma with neutropenia and Rothmund-Thomson syndrome.

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