LSS - lanosterol synthase Gene

Homo sapiens

Also known as OSC; APMR4; HYPT14; CTRCT44

Gene ID: 4047 | Gene type: protein coding

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

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

Recombinant LSS Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72309	Lanosterol synthase/LSS Protein, Human (P.pastoris, His)	P48449 (T2-P732)	≥95%

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07866	LSS Human Pre-designed siRNA Set A		/	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