ZMIZ1

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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.