Gene
lss
- ID
- ZDB-GENE-050119-7
- Name
- lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
- Symbol
- lss Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have lanosterol synthase activity. Predicted to be involved in cholesterol biosynthetic process. Predicted to localize to lipid droplet. Human ortholog(s) of this gene implicated in cataract 44 and hypotrichosis 14. Is expressed in several structures, including heart; integument; liver; pleuroperitoneal region; and skeletal muscle. Orthologous to human LSS (lanosterol synthase).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Anderson et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
alopecia-mental retardation syndrome 4 | Alliance | Alopecia-intellectual disability syndrome 4 | 618840 |
cataract 44 | Alliance | Cataract 44 | 616509 |
hypotrichosis 14 | Alliance | Hypotrichosis 14 | 618275 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR002365 | Terpene synthase, conserved site |
Domain | IPR032696 | Squalene cyclase, C-terminal |
Domain | IPR032697 | Squalene cyclase, N-terminal |
Family | IPR018333 | Squalene cyclase |
Homologous_superfamily | IPR008930 | Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid |
Domain Details Per Protein
Protein | Length | Squalene cyclase | Squalene cyclase, C-terminal | Squalene cyclase, N-terminal | Terpene synthase, conserved site | Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid |
---|---|---|---|---|---|---|
UniProtKB:A4FVM4
|
735 |
Interactions and Pathways
No data available
Plasmids
No data available