Description | This entry represents the Dachshund-homology domain (DHD), also known as the N-terminal Ski/Sno/Dac domain, found in Ski oncogene protein from vertebrates and Transforming protein Ski from Avian erythroblastosis virus. This domain adopts a mixed α/β structure containing a helix-turn-helix motif, similar to features found in the forkhead/winged-helix family of DNA binding proteins. It contains a conserved CLPQ motif and can bind co-factors. Its structure suggests that it may also bind DNA [ ].Ski may play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. It functions as a repressor of transforming growth factor-beta (TGF-beta) signalling [ , , ]. In humans, mutations in this protein are associated with Shprintzen-Goldberg craniosynostosis syndrome (SGS) [, , ]. | Name | Ski oncogene-like, Dachshund-homology domain |
Short Name | DHD_Ski | Type | Domain |