SAT1
The SAT1 Gene: A Key Player in Immune Function and Health
Description
The SAT1 gene, also known as spermidine/spermine N1-acetyltransferase 1, is located on chromosome 10q23.31. It encodes the SAT1 protein, which plays a crucial role in the metabolism of polyamines, small organic molecules essential for cell growth and differentiation.
SAT1 catalyzes the transfer of an acetyl group from acetyl-CoA to the primary amino group of spermidine and spermine, resulting in the formation of N1-acetylspermidine and N1-acetylspermine, respectively. These acetylated polyamines have different biological properties compared to their unmodified counterparts and are involved in various cellular processes.
Associated Diseases
Mutations in the SAT1 gene have been linked to several human diseases, including:
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Putrescine accumulation disorders: These rare metabolic disorders are characterized by the buildup of putrescine, a toxic polyamine precursor. Mutations in SAT1 disrupt the acetylation of spermidine and spermine, leading to increased putrescine levels and its associated symptoms, such as seizures, developmental delay, and intellectual disability.
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Cancer: SAT1 overexpression has been observed in various types of cancer, including lung, breast, and prostate cancer. Increased SAT1 activity promotes cell proliferation, survival, and migration, contributing to tumor growth and metastasis.
Did you Know ?
A population-based study found that a specific variation in the SAT1 gene (rs11694179) is associated with an increased risk of developing Alzheimer's disease. This variant, which reduces SAT1 expression, may disrupt polyamine metabolism and affect neuronal function, potentially contributing to the development of this neurodegenerative disorder.
