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 enable lanosterol synthase activity. Acts upstream of or within cholesterol biosynthetic process and regulation of chondrocyte differentiation. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in 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 4; cataract; cataract 44; and hypotrichosis 14. Orthologous to human LSS (lanosterol synthase).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

6 figures from 5 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Anderson et al., 2020
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With lss Human Ortholog

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

Associated With lss Via Experimental Models

No data available

Gene Ontology

Protein Domains

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