LSS Gene - Lanosterol Synthase
Key enzyme in cholesterol biosynthesis and associated disorders
Gene Information Card
| Symbol | LSS |
|---|---|
| Full Name | Lanosterol Synthase |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 4047 ncbi.nlm.nih.gov/gene/4047 |
| Ensembl ID | ENSG00000160285 |
| UniProt ID | P48449 |
| OMIM ID | 600909 |
| HGNC ID | 6708 |
| Aliases | OSBP, OSC, ERG7 |
Description
LSS encodes lanosterol synthase, a key enzyme in the cholesterol biosynthesis pathway that catalyzes the cyclization of (S)-2,3-oxidosqualene to lanosterol. Mutations in this gene are associated with congenital cataracts, hypotrichosis, and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) | Loss-of-function mutations impair lanosterol production, disrupting lens membrane integrity | ClinVar, OMIM |
| Hypotrichosis simplex | Missense mutations reduce enzyme activity, affecting hair follicle development | ClinVar, OMIM |
| Cholesterol biosynthesis disorders | Deficient lanosterol synthase leads to accumulation of toxic precursors | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adrenal gland | 8.2 | Medium |
| Skin | 4.1 | Medium |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte line |
| A549 | 6.8 | Lung carcinoma |
| HaCaT | 5.2 | Keratinocyte line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1024G>A (p.Gly342Ser) | Missense | Rare | Reduced enzyme activity; associated with hypotrichosis |
| c.1486C>T (p.Arg496*) | Nonsense | Rare | Loss of function; associated with congenital cataracts |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Most LSS mutations are loss-of-function, reducing or abolishing lanosterol synthase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • lanosterol synthase activity (GO:0000250) | • cholesterol biosynthetic process (GO:0006695) |
| • endoplasmic reticulum (GO:0005783) | • sterol biosynthetic process (GO:0016126) |
Pathways
• KEGG: hsa00100 – Steroid biosynthesis
• Reactome: R-HSA-191273 – Cholesterol biosynthesis
Protein Summary
Lanosterol synthase is a 732-amino-acid integral membrane protein localized to the endoplasmic reticulum. It catalyzes the first committed step in sterol biosynthesis, converting (S)-2,3-oxidosqualene to lanosterol. The enzyme is essential for cholesterol production and membrane integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LSS Knockout HEK293 Cell Line | EDJ-KQ3741 | Human | 4047 | Details Get a Quote |
| LSS Knockout A-549 Cell Line | EDJ-KQ25800 | Human | 4047 | Details Get a Quote |
| LSS Knockout HCT 116 Cell Line | EDJ-KQ25801 | Human | 4047 | Details Get a Quote |
| LSS Knockout HeLa Cell Line | EDJ-KQ25802 | Human | 4047 | Details Get a Quote |
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