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Gene

LSS

lanosterol synthase

Summary

Cytogenetic location
21q22.3
Coordinates
Chromosome 21: 46,188,446–46,228,774 (GRCh38)
Exons
22 exons across 40.3 kb
Protein
732 amino acids
Also known as
OSC
MANE Select transcript
ENST00000397728.8NM_002340.6
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 reports relevant to this gene

  • Hereditary Congenital & Juvenile Cataract

    • Early-Onset Non-Syndromic Cataract

      Cataract that appears at birth or early in life without other features, caused by changes in lens genes such as the crystallins (CRYAA, CRYBB2, CRYGD and others), GJA3, GJA8 and MIP.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Early detection and surgery in children help prevent permanent vision loss from amblyopia, and family members can be offered eye checks.

  • Hereditary Hypotrichosis, Woolly Hair and Monilethrix

    • Hereditary hypotrichosis

      Sparse or absent scalp and body hair from childhood, including the LIPH- and LPAR6-related forms.

      • 1 GenCC submitter rates it definitive or strong

How LSS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 21, with a bracket where LSS sits. LSS and 13 genes near it on chromosome 21, from 45,708,610 to 46,708,609.Chromosome 2121q22.3p13p12p11.2p11.1q11.1q11.2q21.1q21.2q21.3q22.11q22.12q22.13q22.2q22.345.8 Mb46 Mb46.2 Mb46.4 Mb46.6 MbPCBP3: 45,643,661–45,942,454, forward strandPCBP3COL6A1: 45,981,727–46,005,050, forward strandCOL6A1COL6A2: 46,096,722–46,132,851, forward strandCOL6A2FTCD: 46,136,082–46,156,047, reverse strandFTCDSPATC1L: 46,161,148–46,184,476, reverse strandSPATC1LLSS: 46,188,446–46,228,774, reverse strandLSSMCM3AP: 46,232,689–46,286,617, reverse strandMCM3APYBEY: 46,285,831–46,313,301, forward strandYBEYC21orf58: 46,291,929–46,324,470, reverse strandC21orf58PCNT: 46,324,082–46,445,769, forward strandPCNT: 46,326,288–46,326,491, forward strandDIP2A: 46,458,841–46,572,746, forward strandDIP2AS100B: 46,598,355–46,605,208, reverse strandS100BPRMT2: 46,635,197–46,666,229, forward strandPRMT2Diagram of LSS: 22 exons on the reverse strand of chromosome 21Exon 20: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 22: 46,188,446–46,191,235, 2,790 basesExon 21: 46,191,881–46,191,959, 79 basesExon 20: 46,194,491–46,194,661, 171 basesExon 19: 46,195,676–46,195,756, 81 basesExon 18: 46,196,202–46,196,267, 66 basesExon 17: 46,205,836–46,205,941, 106 basesExon 16: 46,206,672–46,206,768, 97 basesExon 15: 46,207,428–46,207,577, 150 basesExon 14: 46,208,251–46,208,301, 51 basesExon 13: 46,209,554–46,209,625, 72 basesExon 12: 46,210,688–46,210,744, 57 basesExon 11: 46,213,025–46,213,052, 28 basesExon 10: 46,213,738–46,213,835, 98 basesExon 9: 46,215,180–46,215,298, 119 basesExon 8: 46,215,685–46,215,793, 109 basesExon 7: 46,216,389–46,216,524, 136 basesExon 6: 46,219,476–46,219,572, 97 basesExon 5: 46,221,854–46,221,975, 122 basesExon 4: 46,222,630–46,222,738, 109 basesExon 3: 46,227,552–46,227,690, 139 basesExon 2: 46,228,434–46,228,599, 166 basesExon 1: 46,228,732–46,228,774, 43 bases22201510515′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 4.9 kb of the gene's 40.3 kb; 2,199 of those bases code for the protein.

How a genome test reads LSS

15

positions in LSS 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 40.3 kb of LSS, introns included, not only the 4.9 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.). LSS gene: lanosterol synthase. Retrieved 16 October 2026, from https://dantelabs.com/genes/lss

Vancouver

Dante Labs. LSS gene: lanosterol synthase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lss

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