HPRT1 : hypoxanthine phosphoribosyltransferase 1
Description
The HPRT1 (hypoxanthine phosphoribosyltransferase 1) is a protein-coding gene located on chromosome X.
The HPRT1 gene provides instructions for producing hypoxanthine phosphoribosyltransferase 1 (HPRT1), an enzyme critical for purine recycling in cells. Purines, building blocks of DNA and RNA, can be either manufactured or recycled. Recycling purines is more efficient, requiring less energy and time, ensuring a sufficient supply for DNA and RNA production. This recycling process is known as the purine salvage pathway.
HPRT1 is also known as HGPRT, HPRT.
Associated Diseases
- Lesch-Nyhan syndrome
- Gout, hprt-related
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency
