LSS Chromosome 21
Lanosterol synthase
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What This Gene Does
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]
Associated Conditions (7)
Cataract 44
Hypotrichosis 14
Alopecia-intellectual disability syndrome 4
Cervical cancer
LSS-related disorder
Cholangiocarcinoma
Inborn genetic diseases
Key Variants
RS373046759
Conflicting classifications of pathogenicity
Health Risk
RS561449819
Conflicting classifications of pathogenicity
Cataract 44, Hypotrichosis 14, Alopecia-intellectual disability syndrome 4
Health Risk
RS748758448
Conflicting classifications of pathogenicity
Alopecia-intellectual disability syndrome 4, LSS-related disorder, Cholangiocarcinoma
Health Risk
RS779175503
Conflicting classifications of pathogenicity
Inborn genetic diseases, LSS-related disorder, Inborn genetic diseases
Health Risk
RS1249530918
Likely pathogenic
Hypotrichosis 14, Cataract 44, Hypotrichosis 14
Health Risk
RS1435018884
Likely pathogenic
Cataract 44, Cataract 44
Health Risk
RS148141905
Likely pathogenic
Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
Health Risk
RS2123758710
Likely pathogenic
Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
Health Risk
RS2517204124
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754230211
Likely pathogenic
Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
Health Risk
RS766810560
Likely pathogenic
Health Risk
RS769430360
Likely pathogenic
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS373046759 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS561449819 | Health Risk | Conflicting classifications of pathogenicity | Cataract 44, Hypotrichosis 14, Alopecia-intellectual disability syndrome 4 |
| RS748758448 | Health Risk | Conflicting classifications of pathogenicity | Alopecia-intellectual disability syndrome 4, LSS-related disorder, Cholangiocarcinoma |
| RS779175503 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, LSS-related disorder, Inborn genetic diseases |
| RS1249530918 | Health Risk | Likely pathogenic | Hypotrichosis 14, Cataract 44, Hypotrichosis 14 |
| RS1435018884 | Health Risk | Likely pathogenic | Cataract 44, Cataract 44 |
| RS148141905 | Health Risk | Likely pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS2123758710 | Health Risk | Likely pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS2517204124 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS754230211 | Health Risk | Likely pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS766810560 | Health Risk | Likely pathogenic | — |
| RS769430360 | Health Risk | Likely pathogenic | — |
| RS987857709 | Health Risk | Likely pathogenic | Hypotrichosis 14, Alopecia-intellectual disability syndrome 4, Hypotrichosis 14 |
| RS1260995701 | Health Risk | Pathogenic | Hypotrichosis 14, Hypotrichosis 14 |
| RS1347205213 | Health Risk | Pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS1438103809 | Health Risk | Pathogenic | — |
| RS1569036540 | Health Risk | Pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS1569039353 | Health Risk | Pathogenic | Hypotrichosis 14, Alopecia-intellectual disability syndrome 4, Hypotrichosis 14 |
| RS2080164185 | Health Risk | Pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS2080284670 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2517248411 | Health Risk | Pathogenic | — |
| RS2517250354 | Health Risk | Pathogenic | — |
| RS2517263486 | Health Risk | Pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS369619415 | Health Risk | Pathogenic | — |
| RS377016169 | Health Risk | Pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS570157673 | Health Risk | Pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS745734847 | Health Risk | Pathogenic | Hypotrichosis 14, Alopecia-intellectual disability syndrome 4, Hypotrichosis 14 |
| RS746562872 | Health Risk | Pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS749141857 | Health Risk | Pathogenic | Cataract 44, Cataract 44 |
| RS753714824 | Health Risk | Pathogenic | — |
| RS763705074 | Health Risk | Pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS765496350 | Health Risk | Pathogenic | Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4 |
| RS864622780 | Health Risk | Pathogenic | Cataract 44, Cataract 44 |
| RS142081800 | Health Risk | Pathogenic/Likely pathogenic | Alopecia-intellectual disability syndrome 4, Cataract 44, Hypotrichosis 14 |