USB1
U6 snRNA biogenesis 1
C16orf57, HVSL1, Mpn1, PN, hUsb1
Human USB1 (79650), Mouse Usb1 (101985), Rat Usb1 (307643), cow USB1 (510934), sheep USB1 (101121962), domestic guinea pig Usb1 (100720438), naked mole-rat Usb1 (101718640), Zebrafish usb1 (445066), dog USB1 (611141), domestic cat USB1 (101087629)
- Human(79650) 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]
- Mouse(101985) U6 snRNA biogenesis 1
- Rat(307643) U6 snRNA biogenesis 1
- cow(510934) U6 snRNA biogenesis 1
- sheep(101121962) U6 snRNA biogenesis 1
- domestic guinea pig(100720438) U6 snRNA biogenesis 1
- naked mole-rat(101718640) U6 snRNA biogenesis 1
- Zebrafish(445066) U6 snRNA biogenesis 1
- dog(611141) U6 snRNA biogenesis 1
- domestic cat(101087629) U6 snRNA biogenesis 1
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