Kinesin Family Member 7 (KIF7) gene encodes a protein of 1343 amino acids. This protein belongs to the kinesin family and functions as a negative and positive regulator in the sonic hedgehog (SHH) signaling pathway. In the absence of ligand, it negatively regulates the pathway to prevent inappropriate activation of GLI2, while it acts as a positive regulator when it prevents the processing of the transcription factor GLI3 into its repressor form. This protein is important in GLI3 localization to cilia in response to SHH. Also it affects microtubular dynamics and acts as a ciliary motor. Recently mutations in the KIF7 gene were identified in patients suffering from macrocephaly with multiple epiphyseal dysplasia and distinctive facies.