SPTLC2 Antibody
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货号:CSB-PA022640GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:O15270
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基因名:SPTLC2
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别名:KIAA0526 antibody; LCB 2 antibody; LCB2 antibody; LCB2a antibody; Long chain base biosynthesis protein 2 antibody; Long chain base biosynthesis protein 2a antibody; Serine palmitoyl CoA transferase 2 antibody; Serine palmitoyltransferase 2 antibody; Serine palmitoyltransferase long chain base subunit 2 antibody; Serine palmitoyltransferase subunit II antibody; Serine-palmitoyl-CoA transferase 2 antibody; SPT 2 antibody; SPT2 antibody; SPTC2_HUMAN antibody; SPTLC 2 antibody; Sptlc2 antibody
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宿主:Rabbit
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反应种属:Human,Mouse
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免疫原:Human SPTLC2
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免疫原种属:Homo sapiens (Human)
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抗体亚型:IgG
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纯化方式:Antigen Affinity Purified
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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产品提供形式:Liquid
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应用范围:ELISA,WB
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Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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靶点详情
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功能:Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate. Plays an important role in de novo sphyngolipid biosynthesis which is crucial for adipogenesis.
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基因功能参考文献:
- 2 families had late-onset autosomal dominant HSAN1C caused by a new variant in SPTLC2, c.547C>T, p.(Arg183Trp). The variant changed a conserved amino acid. PMID: 26573920
- The activities of the hLCB2a mutants were measured in the presence of ssSPTa and ssSPTb and was found that all decrease enzyme activity. PMID: 24175284
- Mutations in SPTLC2 are associated with increased deoxySL formation causing hereditary sensory and autonomic neuropathy type 1 (HSANI) in a familial study. PMID: 23658386
- Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. PMID: 20920666
- results suggest that SPTLC2 mutations are not a common cause for genetic sensory neuropathies. PMID: 12207934
- an increase in transepidermal water loss is an obligatory trigger for the upregulation of serine palmitoyltransferase mRNA expression in human epidermis PMID: 12445191
- Results suggest that functional serine palmitoyltransferase is not a dimer, but a higher organized complex, composed of three distinct subunits (SPTLC1, SPTLC2 and SPTLC3) with a molecular mass of 480 kDa. PMID: 17331073
- discovery of 2 proteins, ssSPTa and ssSPTb, which each interacts with both hLCB1 and hLCB2, suggesting that there are 4 distinct human SPT isozymes. PMID: 19416851
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相关疾病:Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C)
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亚细胞定位:Endoplasmic reticulum membrane; Single-pass membrane protein.
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蛋白家族:Class-II pyridoxal-phosphate-dependent aminotransferase family
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组织特异性:Widely expressed.
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数据库链接:
HGNC: 11278
OMIM: 605713
KEGG: hsa:9517
STRING: 9606.ENSP00000216484
UniGene: Hs.435661
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