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Gene

SORD

sorbitol dehydrogenase

Summary

Cytogenetic location
15q21.1
Coordinates
Chromosome 15: 45,023,195–45,077,185 (GRCh38)
Exons
9 exons across 54 kb
Protein
357 amino acids
Also known as
SDH, XDH
MANE Select transcript
ENST00000267814.14NM_003104.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Charcot-Marie-Tooth Disease

    • Distal Hereditary Motor Neuropathy

      Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.

      • 2 GenCC submitters rate it definitive or strong

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

How SORD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where SORD sits. SORD and 16 genes near it on chromosome 15, from 44,550,190 to 45,550,189.Chromosome 1515q21.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.344.6 Mb44.8 Mb45 Mb45.2 Mb45.4 MbEIF3J: 44,537,055–44,564,631, forward strandEIF3JSPG11: 44,554,436–44,663,688, reverse strandSPG11PATL2: 44,665,723–44,711,384, reverse strandPATL2B2M: 44,711,253–44,718,851, forward strandB2MTRIM69: 44,728,986–44,767,829, forward strandTRIM69TERB2: 44,956,687–44,979,229, forward strandTERB2SORD: 45,023,195–45,077,185, forward strandSORDDUOX2: 45,092,650–45,114,185, reverse strandDUOX2DUOXA2: 45,114,325–45,118,421, forward strandDUOXA2DUOXA1: 45,117,364–45,130,611, reverse strandDUOXA1DUOX1: 45,129,450–45,165,576, forward strandDUOX1SHF: 45,165,572–45,201,175, reverse strandSHFSLC28A2: 45,252,227–45,277,846, forward strandSLC28A2GATM: 45,333,479–45,402,327, reverse strandGATMAFG2B: 45,402,325–45,421,415, forward strandAFG2BCOXFA4L3: 45,430,579–45,448,761, forward strandCOXFA4L3SLC30A4: 45,479,606–45,522,834, reverse strandSLC30A4Diagram of SORD: 9 exons on the forward strand of chromosome 15Exon 2: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 1: 45,023,195–45,023,349, 155 basesExon 2: 45,040,408–45,040,441, 34 basesExon 3: 45,043,257–45,043,421, 165 basesExon 4: 45,061,067–45,061,226, 160 basesExon 5: 45,065,271–45,065,389, 119 basesExon 6: 45,068,181–45,068,246, 66 basesExon 7: 45,068,877–45,069,052, 176 basesExon 8: 45,072,317–45,072,438, 122 basesExon 9: 45,073,365–45,077,185, 3,821 bases1246895′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.8 kb of the gene's 54 kb; 1,074 of those bases code for the protein.

How a genome test reads SORD

6

positions in SORD where ClinVar classes a change as pathogenic or likely pathogenic

6 of them (100%) fall in regions short reads find hard.

  • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (6 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 54 kb of SORD, introns included, not only the 4.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SORD gene: sorbitol dehydrogenase. Retrieved 17 October 2026, from https://dantelabs.com/genes/sord

Vancouver

Dante Labs. SORD gene: sorbitol dehydrogenase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sord

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