Rabbit Polyclonal Antibody to DHCR7

包装: 1G|100G|500G|1KG|100KG

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别名:7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase, DHCR7, D7SR
应用:WB
反应种属:Human, Mouse, Rat
规格：50μl/100μl

Description
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.

Description

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.

Specification
Aliases	7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase, DHCR7, D7SR
Entrez GeneID	1717
Swissprot	Q9UBM7
WB Predicted band size	54.5kDa
Host/Isotype	Rabbit IgG
Storage	Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Species Reactivity	Human, Mouse, Rat
Immunogen	This DHCR7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 437-463 amino acids from the C-terminal region of human DHCR7.
Formulation	Purified polyclonal antibody supplied in PBS with 0.05% sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.