7-Dehydrocholesterol Reductase (DHCR7) Antibody

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 mental retardation, 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.

• Supplier: Abbexa Ltd.
• Product #: abx026271-400UL
• Clonality: Polyclonal
• Conjugation: Unconjugated
• Host: Rabbit
• Tested Applications: ELISA, WB, IHC, IF/ICC
• UniProt Primary AC: Q9UBM7
• Dry Ice: No
• Availability: Shipped within 5-10 working days.
• Note: This product is for research use only.