Gene
DHCR24
24-dehydrocholesterol reductase
- HGNC 2859↗(opens in a new tab)
- Ensembl gene ENSG00000116133↗(opens in a new tab)
- NCBI Gene 1718↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p32.3
- Coordinates
- Chromosome 1: 54,849,627–54,887,195 (GRCh38)
- Exons
- 9 exons across 37.6 kb
- Protein
- 516 amino acids
- Also known as
- KIAA0018, seladin-1
- Previous symbols
- DCE
- MANE Select transcript
- ENST00000371269.9NM_014762.4
- 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 DHCR24 yet. The test sequences your whole genome, so your data includes it all the same.
How DHCR24 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 4.2 kb of the gene's 37.6 kb; 1,551 of those bases code for the protein.
How a genome test reads DHCR24
9
positions in DHCR24 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 37.6 kb of DHCR24, introns included, not only the 4.2 kb of exons.
Traits linked to DHCR24
The Human Phenotype Ontology lists these as features of the rare conditions DHCR24 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally small head
- Bifid uvula
- Cleft palate
- Little lower jaw
- Receding chin
- Submucous cleft hard palate
- Abnormality of the nose
- Decreased size of nasal bridge
Show 16 more traits
- Depressed nasal bridge
- Downward slanting of the opening between the eyelids
- Gingival fibromatosis
- Increased size of gum ridge
- Narrow mouth
- Short nose
- Big calvaria
- Corners of eye widely separated
- Eye folds
- Frontal bossing
- Long, narrow head
- Narrow forehead
- Prominent forehead
- Relatively large head
- Short neck
- Nasal tip, upturned
Abnormality of the musculoskeletal system
- Involuntary muscle stiffness, contraction, or spasm
- Distal arthrogryposis
- Muscle stiffness
- Rigidity
- Spasticity and rigidity of muscles
- Increased bone density in skeletal bones
- Harder, denser, fracture-prone bones
- Increased bone mineral density
Show 2 more traits
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.). DHCR24 gene: 24-dehydrocholesterol reductase. Retrieved 16 October 2026, from https://dantelabs.com/genes/dhcr24
Dante Labs. DHCR24 gene: 24-dehydrocholesterol reductase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dhcr24
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