脱氢胆固醇还原酶7抗体
规格：1mg/1ml
英文名： DHCR7
别名： 7 dehydrocholesterol reductase; 7 DHC reductase; Delta 7 dehydrocholesterol reductase; Putative sterol reductase SR 2; Sterol Delta; DHCR7_HUMAN.
分子量： 54kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human DHCR7
交叉反应：Human, Mouse, Rat, Chicken, Dog, Cow, Horse,
细胞定位：细胞浆 细胞膜
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脱氢胆固醇还原酶7抗体 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, 脱氢胆固醇还原酶7抗体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.
脱氢胆固醇还原酶7抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （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.
研究领域：肿瘤 细胞生物 **学 转录调节因子
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid