The PYCR1 gene provides instructions for making a protein that is located in the energy-producing structures of cells, called mitochondria. The PYCR1 protein appears to be important for the function of mitochondria and it helps in the formation (synthesis) of the protein building block (amino acid) proline.
The formation of proline is a multi-step process that converts the amino acid glutamate to the amino acid proline. The PYCR1 protein carries out the last step in this process by turning pyrroline-5-carboxylate into proline. The conversion between proline and glutamate is important in maintaining a supply of the amino acids needed for protein production, and for energy transfer within the cell.
Other Names
P5C
Related Genetics Topics
Identifiers
- NCBI Gene: 5831
- OMIM: 179035
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
