SORD wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SORD wild-type allele is located in the vicinity of 15q21.1 and is approximately 54 kb in length. This allele, which encodes sorbitol dehydrogenase protein, is involved in the dehydrogenation of sugar alcohols in the polyol pathway. Mutations in the gene are associated with autosomal recessive distal hereditary motor neuronopathy 8.

**Synonyms:** - HEL-S-95n - HMNR8 - RDH - SDH - SORD1 - SORDD - Sorbitol Dehydrogenase wt Allele - XDH