LSS Gene Summary [Human]
The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]
Details
| Type | Protein Coding |
| Official Symbol | LSS |
| Official Name | lanosterol synthase [Source:HGNC Symbol;Acc:HGNC:6708] |
| Ensembl ID | ENSG00000160285 |
| Bio databases IDs | |
| Aliases | lanosterol synthase, Oxidosqualene-lanosterol cyclase |
| Synonyms | 2,3-OXIDOSQUALENE-LANOSTEROL CYCLASE, 2810025N20Rik, APMR4, CTRCT44, D10Ertd116e, HYPT14, LANOSTEROL CYCLASE, LANOSTEROL SYNTHASE, LOC103690153, OSC |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LSS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Prenyltransferase and squalene oxidase repeat
- ISOPREN_C2_like
- Squalene-hopene cyclase C-terminal domain
- squalene/oxidosqualene cyclases
- lanosterol synthase
- squalene-hopene cyclase
- 2,3-oxidosqualene cyclase
- squalene--tetrahymanol cyclase
- enzyme
- protein binding
- Squalene-hopene cyclase N-terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infection
- epithelial cancer
- cataract 44
- tinea corporis
- tinea pedis
- tinea versicolor
- Alzheimer disease
- alopecia-mental retardation syndrome type 4
- hereditary disorder
- hypotrichosis type 14
role in cell
- survival
- regrowth in
- regrowth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- lipid droplets
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LSS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of protein stability
- cholesterol biosynthetic process
- steroid biosynthetic process
- triterpenoid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- lipid particle
- endoplasmic reticulum membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- lanosterol synthase activity