NADP
NAB2 (NGFI-A Binding Protein 2) is a gene that encodes a protein involved in transcriptional regulation and RNA processing. It is located on chromosome 12 in humans. NAB2 is part of the NAB family of proteins, which are known to interact with EGR1 (Early Growth Response 1) and other transcription factors to modulate gene expression.
Function[edit | edit source]
NAB2 is primarily known for its role in the regulation of gene expression. It acts as a transcriptional co-repressor by binding to EGR1 and other related transcription factors. This interaction is crucial for the modulation of genes involved in cell growth, differentiation, and apoptosis.
In addition to its role in transcriptional regulation, NAB2 has been implicated in RNA processing. It contains zinc finger domains that are characteristic of RNA-binding proteins, suggesting a role in the post-transcriptional regulation of gene expression.
Clinical Significance[edit | edit source]
Mutations in the NAB2 gene have been associated with various neurological disorders. For instance, NAB2 mutations have been linked to intellectual disability and neurodegenerative diseases.
NAB2 is also involved in the pathogenesis of certain types of cancer. It has been studied in the context of meningiomas, where NAB2-STAT6 gene fusions are a characteristic feature of solitary fibrous tumors.
Research[edit | edit source]
Ongoing research is focused on understanding the precise mechanisms by which NAB2 regulates gene expression and its role in disease. Studies are also exploring the potential of targeting NAB2 interactions for therapeutic purposes, particularly in cancer treatment.
Also see[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD