NFYA

NFYA is a gene that encodes the alpha subunit of the nuclear factor Y (NF-Y) transcription factor complex in humans. This complex is composed of three subunits: NFYA, NFYB, and NFYC. NF-Y is a ubiquitous transcription factor that binds to the CCAAT box motif, a common element in many gene promoters. It plays a crucial role in the regulation of various genes involved in cell growth, development, and differentiation.

Structure

The NFYA gene is located on the short (p) arm of chromosome 6 at position 22.1. The gene spans approximately 15 kilobases and consists of 8 exons. The encoded protein, NFYA, is a 347-amino acid protein with a molecular weight of approximately 39 kilodaltons. It contains a highly conserved DNA-binding domain, which is responsible for its interaction with the CCAAT box in the promoter regions of target genes.

Function

NFYA, as part of the NF-Y complex, is involved in the regulation of a wide variety of genes. It binds to the CCAAT box, a common promoter element found in many genes. This binding activity is crucial for the transcriptional activation of these genes. NFYA is involved in the regulation of genes associated with cell cycle progression, apoptosis, and cell differentiation. It also plays a role in the response to hypoxia, a condition where there is a deficiency in the amount of oxygen reaching the tissues.

Clinical significance

Mutations in the NFYA gene have been associated with various diseases. For example, alterations in NFYA expression have been observed in several types of cancer, including breast cancer, colorectal cancer, and lung cancer. These alterations may contribute to the abnormal cell growth observed in these cancers. Additionally, NFYA has been implicated in the regulation of genes involved in Alzheimer's disease, suggesting a potential role in this neurodegenerative disorder.

See also

• Nuclear factor Y
• NFYB
• NFYC
• Transcription factor
• Gene promoter