DHCR7 Chromosome 11
7-dehydrocholesterol reductase
Upload your DNA to see your personal genotypes for variants in DHCR7.
What This Gene Does
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
Gene Info
Gene Group
AEBS complex subunits
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000172893
Associated Conditions (26)
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Hepatoblastoma
Microcephaly
Small for gestational age
2-3 toe syndactyly
Elevated circulating 7-dehydrocholesterol concentration
Primary microcephaly
Abnormal brain morphology
See cases
Thymoma
Melanoma
Familial cancer of breast
Acute myeloid leukemia
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
+6 more conditions
Key Variants
RS104886040
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
Health Risk
RS1085307926
Conflicting classifications of pathogenicity
Health Risk
RS114143715
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
Health Risk
RS1222259994
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
Health Risk
RS1248898751
Conflicting classifications of pathogenicity
Inborn genetic diseases, Smith-Lemli-Opitz syndrome, Inborn genetic diseases
Health Risk
RS12800
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder
Health Risk
RS1317526744
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
Health Risk
RS1318919210
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, DHCR7-related disorder, Smith-Lemli-Opitz syndrome
Health Risk
RS1333822866
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
Health Risk
RS1359774813
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
Health Risk
RS1386646132
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
Health Risk
RS139166382
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
Health Risk
All Variants (296)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2539227294 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS2539227728 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS2539227981 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS2539228241 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS2539231409 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS2539231473 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS2539236641 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS2539236798 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS2539236911 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS2539237303 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS2539239056 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS371302153 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS535561852 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS61757582 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder |
| RS745498103 | Health Risk | Likely pathogenic | — |
| RS747656720 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS750211727 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS765154144 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS766495775 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, DHCR7-related disorder, Smith-Lemli-Opitz syndrome |
| RS767031102 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS769639753 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS770174208 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS774275482 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS775034584 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS775575609 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS786200926 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS80338853 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, Abnormal brain morphology, See cases |
| RS80338857 | Health Risk | Likely pathogenic | Smith-Lemli-Opitz syndrome, DHCR7-related disorder, Smith-Lemli-Opitz syndrome |
| RS104886033 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder |
| RS104886035 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS104886039 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome |
| RS104894213 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1057516610 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1057516977 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS121909768 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1247059842 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1294449428 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1316486592 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS143312232 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder |
| RS1555145614 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1555145619 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1555145646 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1555145859 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1555145862 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1555145867 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1555145874 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1555146061 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1565584679 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1565586916 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1591109039 | Health Risk | Pathogenic | Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |