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'''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 ==

<references />

[[Category:Genes]]
[[Category:Transcription factors]]
[[Category:Human proteins]]
{{medicine-stub}}

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

NFIX - Revision history

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