ZNF192P1
Headline: Unraveling the Secrets of the ZNF192P1 Gene
Description
The ZNF192P1 gene, located on chromosome 20, is a fascinating and complex component of the human genome. It encodes a protein called zinc finger protein 192 homolog P1, which plays a crucial role in various biological processes, including gene regulation, cell differentiation, and embryonic development.
Associated Diseases
Mutations or dysregulation of the ZNF192P1 gene have been linked to several genetic disorders, primarily affecting the skeleton and nervous system:
- Dandy-Walker Malformation: A birth defect characterized by an underdeveloped cerebellum and fluid-filled cavities in the brain.
- Hypopituitarism: A condition that affects the pituitary gland, leading to hormonal imbalances and growth problems.
- Metaphyseal Dysplasia, Schmidt-Frauchiger Type: A rare bone disorder causing abnormal bone growth and development.
Did you Know ?
Approximately 1 in 100,000 individuals is affected by Dandy-Walker Malformation, one of the most common genetic conditions associated with ZNF192P1 mutations.
