Gene Summary: The protein encoded by PGK1 gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. PGK1 gene lies on the X-chromosome, while a related pseudogene also has been found on the X-chromosome and another on chromosome 19. [provided by RefSeq, Oct 2008]General information above from NCBI
Involvement in disease: Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]: A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarity: Belongs to the phosphoglycerate kinase family.