兔抗DHCR7多克隆抗體

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.

Applications:

ELISA, IHC

Name of antibody:

DHCR7

Immunogen:

Fusion protein of human DHCR7

Full name:

7-dehydrocholesterol reductase

Synonyms：

SLOS

SwissProt:

Q9UBM7

ELISA Recommended dilution:

1000-2000

IHC positive control:

Human colon cancer and human thyroid cancer

IHC Recommend dilution:

25-100