NFIA
NFIA is a gene that encodes the nuclear factor I/A protein in humans. This protein is a member of the nuclear factor I (NFI) family, which are transcription factors involved in various biological processes such as development, growth, and cellular differentiation.
Function
The NFIA gene is crucial for the development of the central nervous system and the urinary system. It plays a significant role in the differentiation of glial cells, which are essential for the proper functioning of neurons. In the urinary system, NFIA is involved in the development of the kidney and the ureter.
Clinical Significance
Mutations in the NFIA gene can lead to various medical conditions. One such condition is NFIA-related disorder, a rare genetic disorder characterized by developmental delay, intellectual disability, and abnormalities in the brain and urinary system.
Research
Research on the NFIA gene is ongoing, with scientists studying its role in various diseases and conditions. For example, some studies suggest that NFIA may play a role in glioblastoma, a type of brain cancer.
See Also
References
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Contributors: Prab R. Tumpati, MD