NFIX
From WikiMD's Wellness Encyclopedia
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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