" /> H6PD wt Allele - CISMeF





Preferred Label : H6PD wt Allele;

NCIt synonyms : Glucose Dehyrogenase Gene; CORTRD1; Glucose 1-Dehydrogenase Gene; Glucose Dehydrogenase Gene; Hexose-6-Phosphate Dehydrogenase (Glucose 1-Dehydrogenase) Gene; 6-Phosphogluconolactonase Gene; G6PD, H Form Gene; Hexose-6-Phosphate Dehydrogenase Gene; G6PDH; H6PDH; Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase wt Allele; Glucose-6-Phosphate Dehydrogenase, Salivary Gene; Hexose-6-Phosphate Dehydrogenase Precursor Gene; GDH;

NCIt definition : Human H6PD wild-type allele is located in the vicinity of 1p36.22 and is approximately 37 kb in length. This allele, which encodes GDH/6PGL endoplasmic bifunctional protein, plays a role in hexose metabolism and the pentose phosphate pathway. Loss of function mutations in the gene are associated with cortisone reductase deficiency 1.;

NCI Metathesaurus CUI : CL1799192;

GenBank Accession Number : AJ012590;

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09/05/2024


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