ZMIZ1
The Zmiz1 Gene: Unraveling Its Profound Impact on Health
Description
The zmiz1 gene, also known as zinc finger, Miz-type containing 1, resides on chromosome 10 in humans. It encodes a protein named Zmiz1, which plays a crucial role in various biological processes, including cell division, cell fate determination, and gene expression.
Associated Diseases
Disruptions in the zmiz1 gene have been linked to several diseases, including:
- Microcephaly: A condition characterized by an abnormally small head and brain, which can lead to intellectual disability and developmental delays.
- Congenital heart defects: Structural abnormalities of the heart that occur during fetal development.
- Orofacial clefts: Birth defects that involve a cleft in the lip and/or palate.
- Intellectual disability: A reduced intellectual ability that significantly affects an individual's daily life.
Did you Know ?
Epidemiological studies suggest that mutations in the zmiz1 gene are present in approximately 1 in 100,000 individuals worldwide.
