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FLASH GENE

Symbol

LSS

contributors: mct - updated : 26-10-2018

HGNC name	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
HGNC id	6708

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARCC8 congenital cataract, autosomal recessive 8 HTS6 hereditary hypotrichosis simplex 6
Location	21q22.3      Physical location : 47.608.360 - 47.648.738
Synonym name	2,3-epoxysqualene--lanosterol cyclase
	oxidosqualene cyclase
Synonym symbol(s)	OSC
EC.number	5.4.99.7

DNA

TYPE	functioning gene
STRUCTURE	40.38 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	cen - COL18A1 - SLC19A1 - D21S91 - D21S544 - D21S112 - COL6A1 - LSS - COL6A2 - PCNT2 - D21S1446 - S100B - D21S1575 - HRMT1L1
Authors	Lapenta (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002340 22 - 4258 NP_002331 - 732 - 2015 26200341 also termed oxidosqualene cyclase NM_001001438 23 - 2692 NP_001001438 - 732 - 2015 26200341 NM_001145436 22 - 4225 NP_001138908 - 721 - 2015 26200341 NM_001145437 21 - 4390 NP_001138909 - 652 - 2015 26200341

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       highly Reproductive male system prostate     highly   male system testis     highly Skin/Tegument skin appendages hair sheath   predominantly Homo sapiens   skin appendages skin gland sebaceous gland     Homo sapiens   skin appendages skin gland sweat gland     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument hair follicle cell Homo sapiens Skin/Tegument keratinocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

four PTFB repeats

HOMOLOGY

Homologene

FAMILY

terpene cyclase/mutase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	localized in the endoplasmic reticulum (ER)

basic FUNCTION	lanosterol synthase catalyzing cyclization of squalene-2,3-epoxide to lanosterol (biosynthesis of cholesterol, steroid hormones, and vitamin D)
	catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus
	is required to maintain self-renewal in primary erythroid progenitors
	catalyzes the biosynthesis of squalene, the first specific intermediate in the cholesterol biosynthetic pathway
	involved in cholesterol biosynthesis
	key enzyme in the cholesterol biosynthetic pathway
	plays an important role in the regulation of hair growth

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

repressed by

HDAC3 (represses transcription from the lanosterol synthase promoter)

ASSOCIATED DISORDERS

corresponding disease(s)

ARCC8 , HTS6

Susceptibility

to mild essential hypertension

Variant & Polymorphism other	rs2254524 polymorphisms influence both the salt sensitivity of blood pressure (BP) and changes in circulating endogenous ouabain (EO) in response to a low salt diet

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous dermatology   may facilitate the development of novel therapies for hair loss

ANIMAL & CELL MODELS

plasma cholesterol-lowering and transient liver dysfunction in mice lacking squalene synthase in the liver