NAT10
The NAT10 (N-acetyltransferase 10) gene encodes an enzyme that functions as a histone acetyltransferase and also has other important roles in cellular processes such as ribosome biogenesis and telomere maintenance.
Key Points about NAT10:
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Location and Structure:
- Chromosomal Location: NAT10 is located on chromosome 11q23.3 in humans.
- Protein Structure: The protein encoded by NAT10 contains domains that are characteristic of histone acetyltransferases (HATs), which are enzymes involved in adding acetyl groups to histone proteins, affecting chromatin structure and gene expression regulation.
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Function:
- Histone Acetyltransferase Activity: NAT10 acetylates histone H4, which is involved in regulating gene expression by modulating chromatin accessibility.
- Ribosome Biogenesis: NAT10 plays a critical role in the early stages of ribosome biogenesis, specifically in the maturation of the 18S ribosomal RNA (rRNA).
- Telomere Maintenance: NAT10 is implicated in telomere length regulation and telomerase activity, which are crucial for maintaining genomic stability and cell viability.
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Expression:
- NAT10 is widely expressed in various tissues and cell types, reflecting its essential roles in fundamental cellular processes.
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Clinical Relevance:
- Cancer: Altered expression or mutations in NAT10 have been associated with various cancers, including breast cancer and lung adenocarcinoma. NAT10‘s involvement in histone modification and ribosome biogenesis can influence cell growth and proliferation pathways.
- Genetic Disorders: Mutations in NAT10 have been linked to certain genetic disorders, such as Rothmund-Thomson syndrome, which affects growth and development.