DISEASES

Disease-gene associations mined from literature

Literature associating STK36 and brachydactyly type A1

STK36 [ENSP00000295709]

Serine/threonine-protein kinase 36; Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors . Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization . GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur . Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function (By similarity). Essential for construction of the central pair apparatus of motile cilia.

Synonyms:  STK36,  STK36p,  hSTK36,  A0A140VJW1,  C9J1B8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM