NAPRT1
The NĀPRT1 Gene: A Guardian of Cellular Function and Health
Description
The NĀPRT1 gene plays a pivotal role in the proper functioning of cells and the overall health of the human body. Located on chromosome 11, this gene encodes the enzyme nicotinamide phosphoribosyltransferase 1 (NAMPT1), which is essential for the biosynthesis of NAD+, a crucial molecule involved in various cellular processes.
Associated Diseases
Mutations or defects in the NĀPRT1 gene have been linked to several human diseases, including:
- Nicotinamide adenine dinucleotide deficiency (NAD+ deficiency): This rare disorder arises from impaired NAMPT1 activity, leading to low levels of NAD+ and subsequent energy production issues and neurological complications.
- Arthritis: Studies have suggested an association between NĀPRT1 polymorphisms and susceptibility to rheumatoid arthritis, an inflammatory joint disease.
- Cancer: Aberrant NĀPRT1 expression has been implicated in the development and progression of certain cancers, including breast, ovarian, and prostate cancer.
Did you Know ?
Research has found that approximately 5-10% of the human population carry single nucleotide polymorphisms (SNPs) in the NĀPRT1 gene. These SNPs may slightly alter the function or expression of NAMPT1, potentially affecting individual susceptibility to certain diseases or traits.
