英文名称 DHCR7
中文名称 脱氢胆固醇还原酶7抗体
别 名 7 dehydrocholesterol reductase; 7 DHC reductase; Delta 7 dehydrocholesterol reductase; Putative sterol reductase SR 2; Sterol Delta; DHCR7_HUMAN.
说 明 书 0.1ml 0.2ml
研究领域 肿瘤 细胞生物 免疫学 转录调节因子
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Chicken, Dog, Cow, Horse,
产品应用 WB=1:100-500 ELISA=1:500-1000 IP=1:20-100 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 脱氢胆固醇还原酶7抗体(石蜡切片需做抗原修复)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 54kDa
细胞定位 细胞浆 细胞膜
性 状 Lyophilized or Liquid
浓 度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human DHCR7
亚 型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M PBS, pH 7.4 with 10 mg/ml BSA and 0.1% Sodium azide
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
脱氢胆固醇还原酶7抗体产品介绍 background:
The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol.
Function:
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein.
Tissue Specificity:
Most abundant in adrenal gland, liver, testis, and brain.
DISEASE:
Defects in DHCR7 are the cause of Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]; also known as SLO syndrome or RSH syndrome. SLOS is an autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and dysmorphias. All patients suffer from mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.
Similarity:
Belongs to the ERG4/ERG24 family.
Database links:
Entrez Gene: 1717 Human
Entrez Gene: 13360 Mouse
Entrez Gene: 64191 Rat
Omim: 602858 Human
SwissProt: Q9UBM7 Human
SwissProt: O88455 Mouse
SwissProt: Q9Z2Z8 Rat
Unigene: 503134 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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