KIF7
kinesin family member 7
Normal Function
Health Conditions Related to Genetic Changes
Acrocallosal syndrome
At least 20 mutations in the KIF7 gene have been identified in people with acrocallosal syndrome. This rare condition is characterized by certain brain abnormalities, the presence of extra fingers and toes (polydactyly), and distinctive facial features, including widely spaced eyes (hypertelorism) and a prominent forehead. Most of the KIF7 gene mutations that cause acrocallosal syndrome lead to the production of an abnormally short, nonfunctional version of the KIF7 protein or prevent any protein from being produced from the gene. Little is known about the effects of these mutations, although they likely disrupt Sonic Hedgehog signaling during early development. It is unclear how these changes impair the development of the brain, limbs, and other parts of the body in people with acrocallosal syndrome.
More About This Health ConditionRelated Conditions
Acrocallosal syndromeJoubert syndrome
Health Conditions Related to Genetic Changes
At least 20 mutations in the KIF7 gene have been identified in people with acrocallosal syndrome. This rare condition is characterized by certain brain abnormalities, the presence of extra fingers and toes (polydactyly), and distinctive facial features, including widely spaced eyes (hypertelorism) and a prominent forehead. Most of the KIF7 gene mutations that cause acrocallosal syndrome lead to the production of an abnormally short, nonfunctional version of the KIF7 protein or prevent any protein from being produced from the gene. Little is known about the effects of these mutations, although they likely disrupt Sonic Hedgehog signaling during early development. It is unclear how these changes impair the development of the brain, limbs, and other parts of the body in people with acrocallosal syndrome.
MedlinePlus Genetics provides information about Joubert syndrome