DHCR24 Chromosome 1
24-dehydrocholesterol reductase
Upload your DNA to see your personal genotypes for variants in DHCR24.
What This Gene Does
This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Flavoproteins|AEBS complex subunits"
Locus Type
gene with protein product
Location
1p32.3
Ensembl
ENSG00000116133
Associated Conditions (4)
Desmosterolosis
DHCR24-related disorder
Inborn genetic diseases
Non-immune hydrops fetalis
Key Variants
RS138043637
Conflicting classifications of pathogenicity
Desmosterolosis, DHCR24-related disorder, Desmosterolosis
Health Risk
RS142984207
Conflicting classifications of pathogenicity
Desmosterolosis, Desmosterolosis
Health Risk
RS144149165
Conflicting classifications of pathogenicity
Health Risk
RS147213053
Conflicting classifications of pathogenicity
Desmosterolosis, DHCR24-related disorder, Desmosterolosis
Health Risk
RS147656722
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150688144
Conflicting classifications of pathogenicity
Desmosterolosis, Inborn genetic diseases, Desmosterolosis
Health Risk
RS192013345
Conflicting classifications of pathogenicity
Desmosterolosis, Desmosterolosis
Health Risk
RS200217334
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200415528
Conflicting classifications of pathogenicity
Desmosterolosis, Desmosterolosis
Health Risk
RS2101555526
Conflicting classifications of pathogenicity
Non-immune hydrops fetalis, Non-immune hydrops fetalis
Health Risk
RS369624032
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS387906940
Conflicting classifications of pathogenicity
Desmosterolosis, Desmosterolosis
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138043637 | Health Risk | Conflicting classifications of pathogenicity | Desmosterolosis, DHCR24-related disorder, Desmosterolosis |
| RS142984207 | Health Risk | Conflicting classifications of pathogenicity | Desmosterolosis, Desmosterolosis |
| RS144149165 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147213053 | Health Risk | Conflicting classifications of pathogenicity | Desmosterolosis, DHCR24-related disorder, Desmosterolosis |
| RS147656722 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150688144 | Health Risk | Conflicting classifications of pathogenicity | Desmosterolosis, Inborn genetic diseases, Desmosterolosis |
| RS192013345 | Health Risk | Conflicting classifications of pathogenicity | Desmosterolosis, Desmosterolosis |
| RS200217334 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200415528 | Health Risk | Conflicting classifications of pathogenicity | Desmosterolosis, Desmosterolosis |
| RS2101555526 | Health Risk | Conflicting classifications of pathogenicity | Non-immune hydrops fetalis, Non-immune hydrops fetalis |
| RS369624032 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS387906940 | Health Risk | Conflicting classifications of pathogenicity | Desmosterolosis, Desmosterolosis |
| RS748648802 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776954529 | Health Risk | Conflicting classifications of pathogenicity | Desmosterolosis, Inborn genetic diseases, Desmosterolosis |
| RS915474087 | Health Risk | Conflicting classifications of pathogenicity | Desmosterolosis, Desmosterolosis |
| RS119475041 | Health Risk | Likely pathogenic | Desmosterolosis, Desmosterolosis |
| RS1646962392 | Health Risk | Likely pathogenic | Desmosterolosis, Desmosterolosis |
| RS28939092 | Health Risk | Likely pathogenic | Desmosterolosis, Desmosterolosis |
| RS387906939 | Health Risk | Likely pathogenic | Desmosterolosis, Desmosterolosis |
| RS387906938 | Health Risk | Pathogenic | Desmosterolosis, Desmosterolosis |
| RS1010033960 | Health Risk | Pathogenic/Likely pathogenic | Non-immune hydrops fetalis, Non-immune hydrops fetalis |