Disease-gene associations mined from literature

Literature associating SHH and Fanconi renotubular syndrome 1

SHH [ENSP00000297261]

Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains; Sonic hedgehog protein: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the reticulum endoplasmic (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By similarity); Hedgehog signaling molecule family

Synonyms:  SHH,  C9JC48,  D9ZGF9,  F8WB84,  F8WEH4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM