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Details of PKLR gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]: Autosomal dominant phenotype characterized by increase of red blood cell ATP. Note=The disease is caused by mutations affecting the gene represented in this entry. |
102900 |
Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]: A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically |
ranging from severe neonatal jaundice and fatal anemia at birth |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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