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.

Target	7-Dehydrocholesterol Reductase (DHCR7)
Clonality	Polyclonal
Reactivity	Human, Mouse
Tested Applications	ELISA, WB, IHC, IF/ICC
Host	Rabbit
Recommended dilutions	WB: 1/2000, IHC-P: 1/50 - 1/100, IF/ICC: 1/10 - 1/50. Not tested in IHC-F. Optimal dilutions/concentrations should be determined by the end user.
Conjugation	Unconjugated
Immunogen	KLH-conjugated synthetic peptide between 437-463 amino acids from the C-terminal region of human DHCR7.
Isotype	IgG
Form	Liquid
Purification	Purified through a protein A column, followed by peptide affinity purification.
Storage	Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles.
UniProt Primary AC	Q9UBM7 (UniProt, ExPASy)
UniProt Secondary AC	B2R6Z2, O60492, O60717
UniProt Entry Name	DHCR7_HUMAN
Gene Symbol	DHCR7
String	9606.ENSP00000347717
Molecular Weight	Calculated MW: 54.5 kDa
Buffer	PBS containing 0.09% sodium azide.
Availability	Shipped within 5-10 working days.
Note	This product is for research use only.

Research Articles on 7-Dehydrocholesterol Reductase (DHCR7)