XKR4
XKR4 Gene: An Essential Factor in Calcium Signaling
Description
The XKR4 gene, located on the X chromosome, provides instructions for creating a protein called XKR4 (XK-related protein 4). This protein plays a crucial role in calcium signaling, which is essential for various cellular functions, including muscle contraction, nerve transmission, and hormone release.
XKR4 is a member of the XK family of proteins, which are known to regulate calcium channels. Calcium channels allow the movement of calcium ions across cell membranes, controlling the concentration of calcium ions within cells. By regulating calcium channels, XKR4 helps maintain the delicate balance of calcium ions necessary for proper cellular function.
Associated Diseases
Mutations in the XKR4 gene have been linked to several diseases, including:
- Intellectual disability: Mutations in XKR4 can lead to intellectual disability, characterized by impaired cognitive abilities and developmental delays.
- X-linked microcephaly: Mutations in XKR4 can cause X-linked microcephaly, a rare condition characterized by an unusually small head size, developmental delay, and intellectual disability.
- Epilepsy: Mutations in XKR4 have been associated with certain types of epilepsy, a neurological disorder characterized by recurrent seizures.
- Cardiovascular diseases: XKR4 may also play a role in cardiovascular diseases, such as arrhythmias (irregular heartbeats) and hypertension (high blood pressure).
Did you Know ?
Approximately 1 in 50,000 males are affected by mutations in the XKR4 gene, making it a relatively rare condition. However, XKR4 mutations account for a significant proportion of cases of intellectual disability and X-linked microcephaly.
