Expanding the Clinical Spectrum Associated With GLIS3 Mutations.
Habeb, A. M.
Wales, J. K. H.
Hattersley, Andrew T.
De Franco, Elisa
JournalThe Journal of Clinical Endocrinology and Metabolism
Research Support, Non-U.S. Gov't
RightsArchived with thanks to The Journal of clinical endocrinology and metabolism
MetadataShow full item record
GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 mutations are extremely rare.