SC5D Chromosome 11
Sterol-C5-desaturase
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What This Gene Does
This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Fatty acid hydroxylase domain containing
Locus Type
gene with protein product
Location
11q23.3-q24.1
Ensembl
ENSG00000109929
Associated Conditions (3)
Lathosterolosis
Inborn genetic diseases
Cervical cancer
Key Variants
RS1313359281
Conflicting classifications of pathogenicity
Lathosterolosis, Lathosterolosis
Health Risk
RS201959036
Conflicting classifications of pathogenicity
Lathosterolosis, Lathosterolosis
Health Risk
RS541905827
Conflicting classifications of pathogenicity
Lathosterolosis, Inborn genetic diseases, Lathosterolosis
Health Risk
RS570720353
Conflicting classifications of pathogenicity
Lathosterolosis, Cervical cancer, Lathosterolosis
Health Risk
RS760625340
Conflicting classifications of pathogenicity
Lathosterolosis, Lathosterolosis
Health Risk
RS104894295
Likely pathogenic
Lathosterolosis, Lathosterolosis
Health Risk
RS104894296
Likely pathogenic
Lathosterolosis, Lathosterolosis
Health Risk
RS104894297
Pathogenic
Lathosterolosis, Lathosterolosis
Health Risk
RS1947971579
Pathogenic
Lathosterolosis, Lathosterolosis
Health Risk
RS760167278
Pathogenic
Lathosterolosis, Lathosterolosis
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1313359281 | Health Risk | Conflicting classifications of pathogenicity | Lathosterolosis, Lathosterolosis |
| RS201959036 | Health Risk | Conflicting classifications of pathogenicity | Lathosterolosis, Lathosterolosis |
| RS541905827 | Health Risk | Conflicting classifications of pathogenicity | Lathosterolosis, Inborn genetic diseases, Lathosterolosis |
| RS570720353 | Health Risk | Conflicting classifications of pathogenicity | Lathosterolosis, Cervical cancer, Lathosterolosis |
| RS760625340 | Health Risk | Conflicting classifications of pathogenicity | Lathosterolosis, Lathosterolosis |
| RS104894295 | Health Risk | Likely pathogenic | Lathosterolosis, Lathosterolosis |
| RS104894296 | Health Risk | Likely pathogenic | Lathosterolosis, Lathosterolosis |
| RS104894297 | Health Risk | Pathogenic | Lathosterolosis, Lathosterolosis |
| RS1947971579 | Health Risk | Pathogenic | Lathosterolosis, Lathosterolosis |
| RS760167278 | Health Risk | Pathogenic | Lathosterolosis, Lathosterolosis |