LSS (lanosterol synthase)

2015-06-01  

Identity

HGNC
LSS
LOCATION
21q22.3
LOCUSID
4047
ALIAS
APMR4,CTRCT44,HYPT14,OSC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4047
MIM: 600909
HGNC: 6708
Ensembl: ENSG00000160285

Variants:

dbSNP: 4047
ClinVar: 4047
TCGA: ENSG00000160285
COSMIC: LSS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160285ENST00000356396P48449
ENSG00000160285ENST00000397728P48449
ENSG00000160285ENST00000419093H7C3A5
ENSG00000160285ENST00000450351C9J315
ENSG00000160285ENST00000457828P48449
ENSG00000160285ENST00000522411P48449

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Steroid biosynthesisKEGGko00100
Steroid biosynthesisKEGGhsa00100
Metabolic pathwaysKEGGhsa01100
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGhsa_M00101
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGM00101
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376286692023LSS rs2254524 Increases the Risk of Hypertension in Children and Adolescents with Obesity.0
376286692023LSS rs2254524 Increases the Risk of Hypertension in Children and Adolescents with Obesity.0
332222302021Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.5
343185862021Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.5
332222302021Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.5
343185862021Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.5
321015382020Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.12
328772552020The Polymorphism rs2968 of LSS Gene Confers Susceptibility to Age-Related Cataract.6
321015382020Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.12
328772552020The Polymorphism rs2968 of LSS Gene Confers Susceptibility to Age-Related Cataract.6
307233202019Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.15
309231162019Target identification reveals lanosterol synthase as a vulnerability in glioma.27
313222932019A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family.3
307233202019Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.15
309231162019Target identification reveals lanosterol synthase as a vulnerability in glioma.27

Citation

Dessen P

LSS (lanosterol synthase)

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/gene/55266