Genetica Medica, Dipartimento di Scienze della Salute, Universita degli Studi di Milano, Italy
C16orf57 alias USB1 is the gene which mutations underlie poikiloderma with neutropenia (PN) syndrome, a rare genodermatosis with autosomic recessive inheritance. PN patients have an increased risk to develop myelodysplasia and acute myeloid leukaemia in the second decade of life. In 2012, the protein encoded by USB1 has been recognised to be a 2H phosphodiesterase involved in the processing of U6 snRNA, but its action pathway and hence role in the pathogenesis of PN has not yet been elucidated.
NCBI: 79650 MIM: 613276 HGNC: 25792 Ensembl: ENSG00000103005
dbSNP: 79650 ClinVar: 79650 TCGA: ENSG00000103005 COSMIC: USB1
Elisa Adele Colombo
USB1 (U6 snRNA biogenesis 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-02-01
Online version: http://atlasgeneticsoncology.org/gene/44608/usb1