AGTPBP1: A Gene with Impact on Development and Health


AGTPBP1 (ATP-GTP binding protein 1) is a gene that provides the instructions for creating a protein with the same name. This protein plays a crucial role in various cellular processes, including RNA splicing, gene expression, and cell cycle regulation.

AGTPBP1 is primarily found in the nucleus of cells, where it participates in the processing of pre-messenger RNA (pre-mRNA) to produce mature mRNA. This mature mRNA is then translated into functional proteins.

Associated Diseases

Mutations in the AGTPBP1 gene have been linked to a range of genetic disorders, including:

  • Interstitial lung disease (ILD): AGTPBP1 mutations are a common cause of ILD in children and adults. This condition causes inflammation and scarring of the lung tissue, leading to breathing difficulties.
  • Congenital heart defects: Mutations in AGTPBP1 can increase the risk of certain heart defects during fetal development.
  • Neurodevelopmental disorders: Some AGTPBP1 mutations are associated with intellectual disability and developmental delays.
  • Cancer: AGTPBP1 mutations have been implicated in the development of certain types of cancer, such as lung cancer and colorectal cancer.

Did you Know ?

According to the National Institutes of Health (NIH), mutations in the AGTPBP1 gene account for approximately 10% of cases of congenital heart defects. This highlights the significant role AGTPBP1 plays in heart development.

Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.