产品名称
DHCR7 Rabbit Polyclonal Antibody (C-term)
别名
7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase, DHCR7, D7SR
Human Gene ID
NP_001157289.1;NP_001351.2
Human Swissprot No.
Q9UBM7
特异性
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.
背景介绍
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.
组织表达
Widely expressed. Most abundant in adrenal gland, liver, testis, and brain.
细胞定位
Endoplasmic reticulum membrane; Multi-pass membrane protein
纯化
Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.
