Gene
SC5D
sterol-C5-desaturase
- HGNC 10547↗(opens in a new tab)
- Ensembl gene ENSG00000109929↗(opens in a new tab)
- NCBI Gene 6309↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q23.3-q24.1
- Coordinates
- Chromosome 11: 121,292,771–121,313,410 (GRCh38)
- Exons
- 5 exons across 20.6 kb
- Protein
- 299 amino acids
- Previous symbols
- SC5DL
- MANE Select transcript
- ENST00000264027.9NM_006918.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads SC5D yet. The test sequences your whole genome, so your data includes it all the same.
How SC5D is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 6.9 kb of the gene's 20.6 kb; 900 of those bases code for the protein.
How a genome test reads SC5D
4
positions in SC5D 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 20.6 kb of SC5D, introns included, not only the 6.9 kb of exons.
Traits linked to SC5D
The Human Phenotype Ontology lists these as features of the rare conditions SC5D can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Elevated alkaline phosphatase
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
- Elevated circulating lathosterol concentration
- Elevated gamma-glutamyltransferase level
- High blood ammonia levels
- High blood bilirubin levels
- Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). SC5D gene: sterol-C5-desaturase. Retrieved 17 October 2026, from https://dantelabs.com/genes/sc5d
Dante Labs. SC5D gene: sterol-C5-desaturase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sc5d
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