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. Is expressed in several structures, including heart; integument; liver; pleuroperitoneal region; and skeletal muscle. Human ortholog(s) of this gene implicated in alopecia-mental retardation syndrome; cataract 44; and hypotrichosis 14. Orthologous to human LSS (lanosterol synthase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 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 | |||||
UniProtKB:B0S5M5
|
735 |
Interactions and Pathways
No data available
Plasmids
No data available