What does DHCR7 do?
The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase. This enzyme is responsible for the final step in cholesterol production in many types of cells. Specifically, 7-dehydrocholesterol reductase converts a molecule called 7-dehydrocholesterol to cholesterol.
What does 7-dehydrocholesterol reductase do?
The enzyme, 7-dehydrocholesterol reductase, encoded by the 7-dehydrocholesterol reductase (DHCR7) gene catalyzes the last step in cholesterol biosynthesis. Smith-Lemli-Opitz (SLO) syndrome is due to mutations in the 7-dehydrocholesterol reductase (DHCR7) gene located at chromosome 11q12-q13.
What chromosome is the DHCR7 gene on?
The human DHCR7 gene is localised on chromosome 11q13 and its structure has been characterized.
Where is 7-Dehydrocholesterol found?
the epidermis
7-Dehydrocholesterol is found in abundant quantities in the epidermis probably as a side-reaction product from the cholesterol-forming system (Kandutch, 1964). This Δ5,7-unsaturated sterol is found in unprecedented amounts in the epidermis probably because it is a precursor of vitamin D (Holick, 1985).
Where is DHCR7 gene located?
Gene-Phenotype Relationships
| Location | Phenotype | Inheritance |
|---|---|---|
| 11q13.4 | Smith-Lemli-Opitz syndrome | AR |
What is Slos?
Smith-Lemli-Opitz syndrome (SLOS) is a genetic condition that affects many parts of the body. It is an autosomal recessive genetic condition caused by changes in the DHCR7 gene. Problems associated with SLOS are usually noticeable before or shortly after birth (congenital).
What is the function of Dehydrocholesterol?
7-Dehydrocholesterol (7-DHC) is a zoosterol that functions in the serum as a cholesterol precursor, and is photochemically converted to vitamin D3 in the skin, therefore functioning as provitamin-D3.
What protein is affected by Slos?
DHCR7 (7-Dehydrocholesterol Reductase) is a Protein Coding gene. Diseases associated with DHCR7 include Smith-Lemli-Opitz Syndrome and Holoprosencephaly.
Is 7-dehydrocholesterol a steroid?
discovery by Windaus Windaus discovered 7-dehydrocholesterol, which is the chemical precursor of vitamin D, and he showed that it is a steroid. He discovered that it is converted into the vitamin when one of its chemical bonds is broken by the action of sunlight.
How many people have SLOS?
About 1 in 20,000 to 1 in 60,000 people in the US have SLOS. This condition affects males and females equally. However, females are less likely to be diagnosed because they do not have genital differences. SLOS occurs more often in people of European ancestry.
What is SLOS in pregnancy?
In Smith-Lemli-Opitz syndrome (SLOs), 7-dehydrocholesterol (7-DHC) accumulates because there is a block in the pathway for synthesis of cholesterol via 7-DHC. Prenatal diagnosis of SLOs has been achieved by analysis of 7-DHC in amniotic fluid obtained at 16-18 wk from pregnancies at risk.
