SAB1401114

Anti-DHCR7 antibody produced in rabbit

purified immunoglobulin, buffered aqueous solution

• 別名: SLOS
• UNSPSCコード: 12352203
• NACRES: NA.41

特性

• 由来生物: rabbit
• 結合体: unconjugated
• 抗体製品の状態: purified immunoglobulin
• 抗体製品タイプ: primary antibodies
• クローン: polyclonal
• 形状: buffered aqueous solution
• 化学種の反応性: human, rat, mouse
• テクニック: western blot: 1 μg/mL
• NCBIアクセッション番号: NM_001360.1
• UniProtアクセッション番号: Q9UBM7
• 輸送温度: dry ice
• 保管温度: −20°C
• ターゲットの翻訳後修飾: unmodified
• 遺伝子情報: human ... DHCR7(1717)

詳細

詳細

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

免疫原

DHCR7 (NP_001351.1, 1 a.a. ~ 475 a.a) full-length human protein.

Sequence
MAAKLQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF

物理的形状

無色透明のPBS溶液、pH 7.4

免責事項

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

安全性情報

• 保管分類コード: 10 - Combustible liquids
• 引火点(°F): Not applicable
• 引火点(℃): Not applicable