DISEASES

Disease-gene associations mined from literature

Literature associating NOTO and osteogenesis imperfecta type 3

NOTO [ENSP00000381486]

Homeobox protein notochord; Transcription regulator acting downstream of both FOXA2 and Brachyury (T) during notochord development. Required for node morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right patterning; acts upstream of FOXJ1 and RFX3 in this process and is required for the expression of various components important for axonemal assembly and function. Plays a role in regulating axial versus paraxial cell fate (By similarity); NKL subclass homeoboxes and pseudogenes

Synonyms:  NOTO,  A8MTQ0,  A8MTQ0p,  hA8MTQ0,  344022 ...

Linkouts:  STRING  Pharos  UniProt