DHCR7 Antibody

Catalog Number:

36415

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot#: Q9UBM7
NCBI Gene ID: 1717
Gene Accssion: BC000054

Form of Antibody:

Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.

Storage/Stability:

Immunogen:

Fusion protein corresponding to a region derived from internal residues of human 7-dehydrocholesterol reductase

Purification:

Antigen affinity purification.

Specificity/Sensitivity:

The antibody detects endogenous levels of total DHCR7 protein.

Applications:

IHC

Background:

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.

References:

appl_detail:

Immunohistochemistry: 1:25-1:100

Datasheet PDF