KIF23
KIF23: A Gene Involved in Neurodevelopment and Associated Diseases
Description:
KIF23 is a kinesin motor protein that plays a crucial role in transporting vesicles and organelles within cells, particularly neurons. It is involved in the formation of spindle poles during cell division and in maintaining the integrity of axons and dendrites, the long extensions of neurons that send and receive signals. Mutations in the KIF23 gene have been linked to a range of neurodevelopmental disorders.
Associated Diseases:
- Microcephaly with Seckel Syndrome: A rare genetic disorder characterized by an abnormally small head (microcephaly), growth retardation, and intellectual disability.
- Lissencephaly with Congenital Microcephaly (LICM): A severe neurodevelopmental disorder characterized by a smooth brain surface (lissencephaly) and severe microcephaly.
- Spondyloepimetaphyseal Dysplasia with Intellectual Disability, KIF23-Related: A rare genetic disorder characterized by skeletal abnormalities, intellectual disability, and features of both microcephaly and macrocephaly (enlarged head).
- Intellectual Disability with or without Microcephaly: An umbrella term for a group of disorders characterized by intellectual disability, with or without associated microcephaly.
Did you Know ?
Approximately 1 in 50,000 individuals is affected by a KIF23-related disorder.
