SHH
SHH
A gene on chromosome 7q36 that encodes a protein central in early embryonic patterning and the key inductive signal in patterning of the anterior-posterior limb axis, the ventral somites and the ventral neural tube.Molecular pathology
Defects in SHH or in its signalling pathway cause holoprosencephaly, VACTERL syndrome; mutation upstream of SHH disrupts limb patterning and can result in preaxial polydactyly.