NCIt synonyms : AGBK; Kinesin Family Member 7 wt Allele; UNQ340; JBTS12; HLS2; UNQ340/PRO539; MMEDF; ACLS;
NCIt definition : Human KIF7 wild-type allele is located in the vicinity of 15q26.1 and is approximately
54 kb in length. This allele, which encodes kinesin-like protein KIF7, is involved
in microtubule motor activity, the regulation of both hedgehog-mediated GLI transcription
factor activity and microtubule dynamics. Mutation of the gene is associated with
hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12, and macrocephaly
with multiple epiphyseal dysplasia and distinctive facies (MMEDF; AGBK).;