DHCR7 FISH Probe
产品名称: DHCR7 FISH Probe
英文名称: DHCR7 FISH Probe
产品编号: FA0290
产品价格: 0
产品产地: 台湾
品牌商标: Abnova
更新时间: null
使用范围: null
亚诺法生技股份有限公司(Abnova)
- 联系人 :
- 地址 : 台湾台北市内湖区洲子街 108 号 9 楼
- 邮编 : 11493
- 所在区域 : 台湾
- 电话 : +886-920**1152 点击查看
- 传真 : 点击查看
- 邮箱 : sales@abnova.com.tw
- Specification
- Product Description:
- Made to order FISH probes for identification of gene amplification using Fluorescent In Situ Hybridization Technique. (Technology)
- Storage Instruction:
- Store at 4°C in the dark.
- Supplied Product:
- DAPI Counterstain (1500 ng/mL ) 250 uL
- Origin:
- Human
- Source:
- Genomic DNA
- Regulation Status:
- For research use only (RUO)
- Applications
- Fluorescent In Situ Hybridization (Cell)
- Protocol Download
- Application Image
- Fluorescent In Situ Hybridization (Cell)
- Entrez GeneID:
- 1717
- Gene Name:
- DHCR7
- Gene Alias:
- SLOS
- Gene Description:
- 7-dehydrocholesterol reductase
- Gene Ontology:
- Hyperlink
- Gene Summary:
- 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
- Other Designations:
- delta-7-dehydrocholesterol reductase
- Related Disease
- Asperger Syndrome
- Autistic Disorder
- Cardiovascular Diseases
- Cleft Lip
- Cleft Palate
- Diabetes Mellitus, Type 2
- Diseases in Twins
- Ductus Arteriosus, Patent
- Edema
- Genetic Predisposition to Disease
- Infant, Premature, Diseases
- Obstetric Labor, Premature
- Smith-Lemli-Opitz Syndrome
- Social Perception
- Vitamin D Deficiency