DHCR7 Polyclonal Antibody | G-AB-12012

DHCR7 Polyclonal Antibody | G-AB-12012 | Gentaur Antibodies

Overview: 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.

Category Type: Polyclonal Antibody

Research Areas: Cancer, Cardiovascular, Metabolism, Signal Transduction

Synonyms: DHCR7, SLOS

Reactivity: Human

Host: Rabbit

Isotype: IgG

Gene ID: 1717

Accession #:

Clonality:

Immunogen: Recombinant fusion protein of human DHCR7 (NP_001351.2) .

Clone #:

Conjugation: Unconjugated

Swissprot: Q9UBM7

Santa Cruz:

Calculated MW: 54 kDa

Observed MW: 70 kDa

Concentration: 1 mg/mL

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3

Purification method: Affinity purification

Application: WB

Dilution: WB 1:500-1:2000

Storage: Store at -20°C. Avoid freeze / thaw cycles.

DHCR7 Polyclonal Antibody DataSheet