NFIX

NFIX is a gene that encodes the nuclear factor I/X (CCAAT-binding transcription factor) protein in humans. This protein is a member of the nuclear factor I (NFI) family, which are involved in the development of various tissues, including the brain, lung, and the musculoskeletal system.

Function

The protein encoded by the NFIX gene is a transcription factor that binds to the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' found in viral and cellular promoters. It is involved in the regulation of gene expression, cell proliferation, and differentiation.

Clinical Significance

Mutations in the NFIX gene have been associated with Malan syndrome, a rare overgrowth disorder characterized by distinctive facial features, intellectual disability, and skeletal anomalies. Additionally, NFIX mutations have also been linked to Marshall-Smith syndrome, a condition characterized by advanced bone age, failure to thrive, respiratory problems, and distinctive facial features.

Structure

The NFIX gene is located on the q arm of chromosome 19 at position 13.2 and spans 60,000 base pairs. The encoded protein is 520 amino acids long with a predicted molecular weight of approximately 57.6 kDa.

See Also

• Nuclear factor I
• Transcription factor
• Gene expression
• Malan syndrome
• Marshall-Smith syndrome

References

This article incorporates text from the United States National Library of Medicine, which is in the public domain.