LSS - lanosterol synthase Gene

Also Known as OSC; APMR4; HYPT14; CTRCT44

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4047

About LSS

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:46,188,446-46,228,774 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 199 orthologues and is associated with 7 phenotypes. Ubiquitous expression in skin (RPKM 17.0), lung (RPKM 14.7) and 25 other tissues.

Summary

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]

LSS Products (4)

mRNA	Protein	Name
NM_001001438.3	NP_001001438.1	lanosterol synthase isoform 1
NM_001145436.2	NP_001138908.1	lanosterol synthase isoform 2
NM_001145437.2	NP_001138909.1	lanosterol synthase isoform 3
NM_002340.6	NP_002331.3	lanosterol synthase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables lanosterol synthase activity	IGI IGI: Inferred from genetic interaction	7639730	GOA
enables lanosterol synthase activity	IMP IMP: Inferred from mutant phenotype	26200341	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cholesterol biosynthetic process	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in regulation of protein stability	IMP IMP: Inferred from mutant phenotype	26200341	GOA
involved in steroid biosynthetic process	IMP IMP: Inferred from mutant phenotype	26200341	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	30401459	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	14741744	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LSS Protein Structure

Prenyltrans

SQHop_cyclase_N

0
200
400
600
732 a.a.

Protein Preferred Names	Protein Names
lanosterol synthase	2,3-epoxysqualene-lanosterol cyclase

LSS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LSS	P48449	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	LSS	P48449	AQP6	Homo sapiens	Q13520	Validated Y2H	32296183
Intra	LSS	P48449	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	LSS	P48449	TMEM167B	Homo sapiens	Q9NRX6	Validated Y2H	32296183
Intra	LSS	P48449	TMEM167B	Homo sapiens	Q9NRX6	Y2H Array	32296183
Intra	LSS	P48449	TMEM167B	Homo sapiens	Q9NRX6	Y2H Prey Pooling	32296183
Intra	LSS	P48449	SLC10A6	Homo sapiens	Q3KNW5	Validated Y2H	32296183
Intra	LSS	P48449	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	LSS	P48449	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	LSS	P48449	TMEM86B	Homo sapiens	Q8N661	Y2H Array	32296183
Intra	LSS	P48449	TMEM86B	Homo sapiens	Q8N661	Y2H Prey Pooling	32296183
Intra	LSS	P48449	TMEM86B	Homo sapiens	Q8N661	Validated Y2H	32296183
Intra	LSS	P48449	YIF1A	Homo sapiens	O95070	Y2H Array	32296183
Intra	LSS	P48449	YIF1A	Homo sapiens	O95070	Y2H Prey Pooling	32296183
Intra	LSS	P48449	CIB1	Homo sapiens	Q99828	Y2H Prey Pooling	32296183
Intra	LSS	P48449	CIB1	Homo sapiens	Q99828	Validated Y2H	32296183
Intra	LSS	P48449	CIB1	Homo sapiens	Q99828	Y2H Array	32296183
Intra	LSS	P48449	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	LSS	P48449	SLC10A1	Homo sapiens	Q14973	Validated Y2H	32296183
Intra	LSS	P48449	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant LSS Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72309	Lanosterol synthase/LSS Protein, Human (P.pastoris, His)	P48449 (T2-P732)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Cataract 44	CTRCT44 Total Early-Onset Cataract Cataract 44 And Hypotrichosis Cataract And Hypotrichosis Cataract, Type 44
Hypotrichosis 14	HYPT14
Alopecia-Intellectual Disability Syndrome 4	Alopecia-Mental Retardation Syndrome 4 APMR4
Alopecia-Mental Retardation Syndrome 1	APMR1 Alopecia-Intellectual Disability Syndrome 1 Amr Syndrome Alopecia-Intellectual Disability Syndrome Amr Syndrome 1 Alopecia With Severe Intellectual Deficit Apmr Alopecia Intellectual Disbility Syndrome 1 Perniola-Krajewska-Carnevale Syndrome Alopecia - Intellectual Disability Syndrome Alopecia With Mental Retardation Syndrome 1 Perniola Krajewska Carnevale Syndrome
Hypotrichosis Simplex	Hereditary Hypotrichosis Simplex Hhs
Alopecia
Hypotrichosis
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Alopecia-Mental Retardation Syndrome
Spondylolisthesis	Slipped Vertebrae Acquired Spondylolisthesis
Frontometaphyseal Dysplasia 1	FMD1 Fmd
Severe Congenital Neutropenia 2	Scn2
Candida Glabrata	Torulopsis Glabrata
Spondylolysis	Acquired Spondylolysis
Frontometaphyseal Dysplasia 2	FMD2
Cauda Equina Syndrome	Cauda Equina Polyradiculopathy
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Dependent Personality Disorder
Palmoplantar Keratoderma And Congenital Alopecia 2	Cataract-Alopecia-Sclerodactyly Syndrome Cass Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia PPKCA2 Autosomal Recessive Palmoplantar Hyperkeratosis And Congenital Alopecia Palmoplantar Keratoderma And Congenital Alopecia, Wallis Type Ppk-Ca, Wallis Type Cataract, Alopecia, Sclerodactyly Ppkca, Wallis Type Ppkca Wallis Type Cataract, Alopecia, Sclerodactyly Syndrome
Bone Deterioration Disease
Bardet-Biedl Syndrome 8	BBS8 Bardet-Biedl Syndrome, Type 8
Hypotrichosis 2	HYPT2 Hypotrichosis Simplex Of The Scalp 1 Htss1 Htss Hypotrichosis, Spanish Type Spanish Type Hypotrichosis Hypotrichosis Spanish Type Hypotrichosis, Type 2 Hypotrichosis Simplex Of Scalp
Spondylosis	Lumbar Spondylosis With Myelopathy Lumbosacral Spondylosis Without Myelopathy Spondylogenic Compression Of Lumbar Spinal Cord Spondylogenic Compression Of Thoracic Spinal Cord Spondylosis With Myelopathy Thoracic Or Lumbar Spondylosis With Myelopathy
Diffuse Idiopathic Skeletal Hyperostosis	Hyperostosis, Diffuse Idiopathic Skeletal Ankylosing Vertebral Hyperostosis Dish Disseminated Idiopathic Skeletal Hyperostosis Forestier Disease Forestier'S Disease Hyperostosis Diffuse Idiopathic Skeletal
Mature Cataract	Total Or Mature Cataract Total, Mature Senile Cataract
Bone Structure Disease
Frontometaphyseal Dysplasia	Fmd Dysplasia, Frontometaphyseal
Dysgraphia	Agraphia
Pituitary Adenoma 2, Growth Hormone-Secreting	PITA2 Acromegaly Due To Pituitary Adenoma 2 Acromegaly, X-Linked Growth Hormone Secreting Pituitary Adenoma 2 Pituitary Adenoma, Growth Hormone-Secreting, 2 Pituitary Adenoma 2, Gh-Secreting Gh-Secreting Pituitary Adenoma 2 X-Linked Acromegaly Adenoma, Pituitary, Growth Hormone-Secreting, Type 2
Otopalatodigital Syndrome Spectrum Disorder	Opd Spectrum Disorder Opsd Fronto-Otopalatodigital Osteodysplasia
Limited Scleroderma	Limited Cutaneous Systemic Sclerosis Limited Systemic Sclerosis Systemic Sclerosis Sine Scleroderma Crest Syndrome Limited Cutaneous Systemic Scleroderma Scleroderma, Limited Systemic Sclerosis, Limited Progressive Systemic Sclerosis Sine Scleroderma Scleroderma, Sine Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-160972	MM0299	Modulator	98.51%	Unkown
HY-183143	Lss-11		/	Unkown
HY-RS07706	LMBR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07866	LSS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174677	Human GATA1 mRNA		/	Unkown
HY-RS17396	Lss Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23851	Lss Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	LSS	MGD	MGI:1336155
Felis catus	LSS	VGNC	VGNC:68097
Canis familiaris	LSS	VGNC	VGNC:42851
Rattus norvegicus	LSS	RGD	RGD:620955
Bos taurus	LSS	VGNC	VGNC:31065
Macaca mulatta	LSS	VGNC	VGNC:74451
Others	LSS	NCBI