" /> SORD wt Allele - CISMeF





Preferred Label : SORD wt Allele;

NCIt synonyms : HMNR8; RDH; SORDD; SDH; HEL-S-95n; XDH; SORD1; Sorbitol Dehydrogenase wt Allele;

NCIt 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.;

NCIt note : In humans the SORD gene and the highly homologous SORD2P pseudogene lie within a 0.5 Mb region on chromosome 15. The two genes are oriented head-to-head, with their 5-prime ends closest together, and appear to represent an historically recent gene duplication event. SORD2P appears to be nonfunctional; the gene has lost exon 1 and bears single-nucleotide deletion in exon 7 and an Alu insertion in intron 8. (from OMIM);

GenBank Accession Number : NM_003104;

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07/05/2025


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