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Gene

KDSR

3-ketodihydrosphingosine reductase

Summary

Cytogenetic location
18q21.33
Coordinates
Chromosome 18: 63,327,726–63,367,206 (GRCh38)
Exons
10 exons across 39.5 kb
Protein
332 amino acids
Also known as
DHSR, SDR35C1
Previous symbols
FVT1
MANE Select transcript
ENST00000645214.2NM_002035.4
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 reports relevant to this gene

  • Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita

    • Hereditary palmoplantar keratoderma

      Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

How KDSR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 18, with a bracket where KDSR sits. KDSR and 10 genes near it on chromosome 18, from 62,847,466 to 63,847,465.Chromosome 1818q21.33p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2363 Mb63.2 Mb63.4 Mb63.6 Mb63.8 MbPHLPP1: 62,715,424–62,980,433, forward strandPHLPP1BCL2: 63,123,346–63,320,215, reverse strandBCL2KDSR: 63,327,726–63,367,206, reverse strandKDSRVPS4B: 63,389,119–63,422,521, reverse strandVPS4BSERPINB5: 63,476,817–63,505,085, forward strandSERPINB5SERPINB12: 63,542,369–63,569,329, forward strandSERPINB12SERPINB13: 63,586,654–63,604,639, forward strandSERPINB13SERPINB4: 63,637,259–63,644,263, reverse strandSERPINB4SERPINB11: 63,647,579–63,726,432, forward strandSERPINB11SERPINB3: 63,652,584–63,661,893, reverse strandSERPINB3SERPINB7: 63,752,935–63,805,376, forward strandSERPINB7Diagram of KDSR: 10 exons on the reverse strand of chromosome 18Exon 9: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 10: 63,327,726–63,331,901, 4,176 basesExon 9: 63,335,257–63,335,358, 102 basesExon 8: 63,338,800–63,338,883, 84 basesExon 7: 63,344,410–63,344,493, 84 basesExon 6: 63,350,888–63,351,079, 192 basesExon 5: 63,355,204–63,355,299, 96 basesExon 4: 63,355,498–63,355,563, 66 basesExon 3: 63,359,736–63,359,792, 57 basesExon 2: 63,362,779–63,362,868, 90 basesExon 1: 63,367,011–63,367,206, 196 bases10864215′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 5.1 kb of the gene's 39.5 kb; 999 of those bases code for the protein.

How a genome test reads KDSR

4

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

None of them falls in a region short reads find hard.

A whole genome covers all 39.5 kb of KDSR, introns included, not only the 5.1 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.). KDSR gene: 3-ketodihydrosphingosine reductase. Retrieved 16 October 2026, from https://dantelabs.com/genes/kdsr

Vancouver

Dante Labs. KDSR gene: 3-ketodihydrosphingosine reductase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/kdsr

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