H6PD wt Allele

**Semantic type:** Gene or Genome

**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.

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