GENE NAME | H6PD |
CHROMOSOME | 1 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000049239 |
UNIPROT ACCESSION NUMBER | O95479 |
GO MOLECULAR FUNCTION | ['carbohydrate binding', 'NADP binding', 'glucose 1-dehydrogenase (NAD+) activity', '6-phosphogluconolactonase activity', 'glucose-6-phosphate dehydrogenase activity', 'glucose 1-dehydrogenase (NADP+) activity'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa00030; hsa01100; hsa01200 |
1 combination linked to H6PD | OLI1235 |
1 variant linked to H6PD | H6PD:c.1171_1181del, p.Ser391AlafsTer102 |
1 disease linked to H6PD | Recurrent Pregnancy Loss |