Details for Gene H6PD

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

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