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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SC5D
sterol-C5-desaturase
Chromosome 11 Β· 11q23.3-q24.1
NCBI Gene: 6309Ensembl: ENSG00000109929.11HGNC: HGNC:10547UniProt: O75845
39PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
delta7-sterol 5(6)-desaturase activitycholesterol biosynthetic process via lathosterolnegative regulation of ferroptosisendoplasmic reticulum membranelathosterolosisIntellectual disabilitycataractvertebral column disorder
✦AI Summary

SC5D (sterol-C5-desaturase) catalyzes the penultimate step of cholesterol biosynthesis, converting lathosterol to 7-dehydrocholesterol (7-DHC) 1. This enzyme is an integral membrane protein located on chromosome 11.2-24.3 2 and is expressed across multiple tissues, with hepatic expression regulated by cholesterol levels through suppression of promoter activity 2. Beyond cholesterol synthesis, SC5D plays a critical role in ferroptosis regulation. 7-DHC, the product of SC5D, functions as a natural anti-ferroptotic metabolite by using its conjugated diene structure to prevent phospholipid autoxidation and shield plasma and mitochondrial membranes from lipid peroxidation 3. SC5D acts as a ferroptosis suppressor, opposing DHCR7 which promotes ferroptosis sensitivity 3. SC5D mutations cause lathosterolosis, an autosomal recessive malformation syndrome characterized by lathosterol accumulation and cholesterol deficiency 4. In lathosterolosis, impaired SC5D activity disrupts multiple pathways including isoprenoid metabolism, apoptosis, and protein biosynthesis in developing neural tissue, leading to cognitive deficits and developmental abnormalities 4. SC5D expression is also subject to post-transcriptional regulation by miR-7, which modulates cholesterol homeostasis 5.

Sources cited
1
SC5D catalyzes dehydrogenation to introduce C5-6 double bond into lathosterol in cholesterol biosynthesis
PMID: 10786622
2
Human SC5D is located on chromosome 11q24.2-24.3; contains five exons and four introns; expressed across multiple tissues; hepatic expression is regulated by cholesterol levels through suppression of promoter activity
PMID: 11731337
3
7-DHC (product of SC5D) functions as natural anti-ferroptotic metabolite; SC5D acts as ferroptosis suppressor by preventing phospholipid autoxidation
PMID: 38297130
4
SC5D mutations cause lathosterolosis with cholesterol deficiency and lathosterol accumulation; impaired SC5D activity disrupts mevalonate metabolism, apoptosis, glycolysis, and protein biosynthesis in developing brain
PMID: 20305089
5
MiR-7 targets SC5D posttranscriptionally to regulate cholesterol biosynthesis
PMID: 37086967
Disease Associationsβ“˜21
lathosterolosisOpen Targets
0.77Strong
Intellectual disabilityOpen Targets
0.46Moderate
cataractOpen Targets
0.46Moderate
pulmonary vascular congestionOpen Targets
0.23Weak
vertebral column disorderOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
pituitary gland diseaseOpen Targets
0.17Weak
poisoningOpen Targets
0.11Weak
response to antibioticOpen Targets
0.10Weak
esophageal ulcerOpen Targets
0.08Suggestive
Syndactyly type 2Open Targets
0.07Suggestive
syndactyly type 4Open Targets
0.07Suggestive
polydactyly of a triphalangeal thumbOpen Targets
0.06Suggestive
syndactyly type 3Open Targets
0.06Suggestive
Split hand-split foot malformationOpen Targets
0.06Suggestive
mesoaxial synostotic syndactyly with phalangeal reductionOpen Targets
0.06Suggestive
syndactyly type 5Open Targets
0.06Suggestive
syndactyly type 1Open Targets
0.06Suggestive
brachydactyly type A2Open Targets
0.06Suggestive
LathosterolosisUniProt
Pathogenic Variants5
NM_006918.5(SC5D):c.86G>A (p.Arg29Gln)Likely pathogenic
Lathosterolosis
β˜…β˜†β˜†β˜†2025β†’ Residue 29
NM_006918.5(SC5D):c.632G>A (p.Gly211Asp)Likely pathogenic
Lathosterolosis
β˜…β˜†β˜†β˜†2025β†’ Residue 211
NM_006918.5(SC5D):c.630C>A (p.Asp210Glu)Pathogenic
Lathosterolosis
β˜†β˜†β˜†β˜†2020β†’ Residue 210
NM_006918.5(SC5D):c.479C>G (p.Pro160Arg)Pathogenic
Lathosterolosis
β˜†β˜†β˜†β˜†2020β†’ Residue 160
NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser)Pathogenic
Lathosterolosis
β˜†β˜†β˜†β˜†2003β†’ Residue 46
View on ClinVar β†—
Related Genes
ERG28Protein interaction100%CYP51A1Protein interaction99%HMGCRProtein interaction99%HMGCS1Protein interaction99%HMGCS2Protein interaction99%HSD3B1Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Brain
34%
Heart
20%
Bone Marrow
14%
Lung
11%
Ovary
10%
Gene Interaction Network
Click a node to explore
SC5DERG28CYP51A1HMGCRHMGCS1HMGCS2HSD3B1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75845
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.30LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.59–1.30]
RankingsWhere SC5D stands among ~20K protein-coding genes
  • #10,392of 20,598
    Most Researched39
  • #3,600of 5,498
    Most Pathogenic Variants5
  • #13,712of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedSC5D
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
7-Dehydrocholesterol dictates ferroptosis sensitivity.
PMID: 38297130
Nature Β· 2024
1.00
2
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
PMID: 10677299
Am J Hum Genet Β· 2000
0.90
3
"MiR-7 controls cholesterol biosynthesis through posttranscriptional regulation of DHCR24 expression".
PMID: 37086967
Biochim Biophys Acta Gene Regul Mech Β· 2023
0.80
4
Molecular cloning and structural analysis of human sterol C5 desaturase.
PMID: 11731337
Biochim Biophys Acta Β· 2001
0.70
5
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.
PMID: 20305089
Mol Cell Proteomics Β· 2010
0.60