NAXD wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NAXD wild-type allele is located in the vicinity of 13q34 and is approximately 25 kb in length. This allele, which encodes ATP-dependent (S)-NAD(P)H-hydrate dehydratase protein, plays a role in the removal of the inhibitory hydrate groups from NADH-hydrate and NAD(P)H-hydrate. Mutations in the gene are associated with early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 2.

**Synonyms:** - (S)-NADPH-Hydrate Dehydratase, ATP Dependent Gene - ATP-Dependent NAD(P)H-Hydrate Dehydratase Gene - CARKD - Carbohydrate Kinase Domain Containing Gene - FLJ10769 - LP3298 - NAD(P)HX Dehydratase wt Allele - PEBEL2