验证数据展示
产品信息
87141-1-PBS targets SPTLC1 in WB, Indirect ELISA applications and shows reactivity with human samples.
| 经测试应用 | WB, Indirect ELISA Application Description |
| 经测试反应性 | human |
| 免疫原 |
CatNo: Ag1162 Product name: Recombinant human SPTLC1 protein Source: e coli.-derived, PGEX-4T Tag: GST Domain: 1-143 aa of BC007085 Sequence: MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFE 种属同源性预测 |
| 宿主/亚型 | Rabbit / IgG |
| 抗体类别 | Recombinant |
| 产品类型 | Antibody |
| 全称 | serine palmitoyltransferase, long chain base subunit 1 |
| 别名 | EC:2.3.1.50, HSAN1, LCB 1, LCB1, Serine-palmitoyl-CoA transferase 1 |
| 计算分子量 | 53 kDa |
| 观测分子量 | 53 kDa |
| GenBank蛋白编号 | BC007085 |
| 基因名称 | SPTLC1 |
| Gene ID (NCBI) | 10558 |
| 偶联类型 | Unconjugated |
| 形式 | Liquid |
| 纯化方式 | Protein A purification |
| UNIPROT ID | O15269 |
| 储存缓冲液 | PBS only, pH 7.3. |
| 储存条件 | Store at -80°C. The product is shipped with ice packs. Upon receipt, store it immediately at -80°C |
背景介绍
SPTLC1 is a subunit of serine palmitoyltransferase (SPT) which is the key enzyme in sphingolipid biosynthesis and is essential for embryogenesis and cell survival. Mutations in the SPTLC1 gene (C133W, C133Y, V144D, and G387A) were reported to be responsible for the development of an inherited sensory neuropathy (hereditary sensory neuropathy type I, HSN1) (PMID: 39959268). Pathogenic variants in SPTLC1 are causative for hereditary sensory and autonomic neuropathy, juvenile amyotrophic lateral sclerosis, macular telangiectasia type 2, or Charcot-Marie-Tooth disease (PMID: 31751474). Western blot analysis detected a specific band at ~53 kDa (PMID: 36197001).
