Entity Details

Primary name LSS
Entity type gene
Source Source Link

Details

PrimaryID4047
RefseqGeneNG_011510
SymbolLSS
Namelanosterol synthase
Chromosome21
Location21q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-05-07
ModificationDate2021-06-12

Ontological Relatives

UniProt IDsLSS_HUMAN

GO terms

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GOName
GO:0000250 lanosterol synthase activity
GO:0005789 endoplasmic reticulum membrane
GO:0005811 lipid droplet
GO:0006694 steroid biosynthetic process
GO:0006695 cholesterol biosynthetic process
GO:0016020 membrane
GO:0016104 triterpenoid biosynthetic process
GO:0019216 regulation of lipid metabolic process
GO:0031647 regulation of protein stability
GO:0042300 beta-amyrin synthase activity

Diseases

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Disease IDSourceNameDescription
618275 OMIMHypotrichosis 14 (HYPT14)A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair. The disease is caused by variants affecting the gene represented in this entry.
616509 OMIMCataract 44 (CTRCT44)An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The disease is caused by variants affecting the gene represented in this entry.
618840 OMIMAlopecia-mental retardation syndrome 4 (APMR4)An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay. The disease is caused by variants affecting the gene represented in this entry.

Interactions

30 interactions

InteractorPartnerSourcesPublicationsLink
LSSNR4A1BioGRID, IntAct21988832 details
LSSSLC10A1BioGRID, IntAct32296183 details
LSSTMEM86BBioGRID, IntAct32296183 details
LSSCIB1BioGRID, IntAct32296183 details
LSSYIF1ABioGRID, IntAct32296183 details
LSSTMEM167BBioGRID, IntAct32296183 details
LSSSLC10A6BioGRID, IntAct32296183 details
LSSAQP6BioGRID, IntAct32296183 details
LSSGPR35BioGRID, MINT28298427 details
LSSAPPUniProt26045787 details
LSSATP4ABioGRID17255364 details
LSSMYH9BioGRID, IntAct26496610 details
LSSFIP1L1BioGRID, IntAct26496610 details
LSSMYO5CBioGRID, IntAct26496610 details
LSSTNFRSF10ABioGRID, IntAct28514442 details
LSSPNKDBioGRID, IntAct26186194 28514442 details
LSSGATD1BioGRID, IntAct28514442 details
LSSLYPD4BioGRID, IntAct28514442 details
LSSGMLBioGRID, IntAct28514442 details
LSSALOX5BioGRID, IntAct28514442 details
LSSNTRK1BioGRID25921289 details
LSSXPO1BioGRID26673895 details
LSSRNF4BioGRID29180619 details
LSSPEBP1BioGRID31536960 details
LSSPSMD14BioGRID30745168 details
LSSLMBR1LBioGRID31073040 details
LSSBCAR1BioGRID33001583 details
LSSCUL4ABioGRID32235678 details
LSSDNAJC7BioGRID33957083 details
LSSHNRNPLBioGRID28611215 details