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SLC27A4 Antibody

  • 货号：
    CSB-PA021536GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q6P1M0
  • 基因名：
  • 别名：
    SLC27A4; ACSVL4; FATP4; Long-chain fatty acid transport protein 4; FATP-4; Fatty acid transport protein 4; Arachidonate--CoA ligase; Long-chain-fatty-acid--CoA ligase; Solute carrier family 27 member 4; Very long-chain acyl-CoA synthetase 4; ACSVL4
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Human SLC27A4
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 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.

产品评价

靶点详情

  • 功能：
    Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Probably involved in fatty acid transport across the blood barrier. Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones.
  • 基因功能参考文献：
    1. SLC27A4 gene mutation is responsible in the diagnosis of ichthyosis prematurity syndrome in a premature infant. PMID: 26341232
    2. expand the mutational repertory of FATP4 with three undescribed pathogenic mutations in two families PMID: 27168232
    3. The results have interesting implications that SLC27A4/ATG4B complex might be conducive to the occurrence of autophagy in human cancer cells, which is meaningful investigations toward the aim of developing autophagy-targeting drugs and have significant values in clinical application. PMID: 26662804
    4. no association between placental expression and maternal body mass index PMID: 27016784
    5. we resequenced the SLC27A3 and SLC27A4 genes using 267 autism spectrum disorders(ASD) patient and 1140 control samples and detected 47 and 30 variants for the SLC27A3 and SLC27A4, revealing that they are highly polymorphic with multiple rare variants. PMID: 26548558
    6. We describe two siblings with ichthyosis prematurity syndrome and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. PMID: 24889544
    7. the cell surface protein CD36/FAT directly facilitates fatty acid transport across the plasma membrane, whereas the intracellular acyl-CoA synthetases FATP4 and ACSL1 enhance fatty acid uptake indirectly by metabolic trapping PMID: 24503477
    8. the clinical implications of defects in these transporters and relevant animal models, including the FATP4 animal models and ichthyosis prematurity syndrome, a congenital ichthyosis caused by FATP4 deficiency. [review] PMID: 24120574
    9. FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function PMID: 23290633
    10. FATP4 plays crucial roles in the development and maturation of both sebaceous and meibomian glands, as well as in the formation and composition of sebum PMID: 23271751
    11. FATP1 and FATP4 proteins perform different functional roles in handling long chain fatty acids in skeletal muscle PMID: 22235293
    12. even though hypoxia regulates the expression of FATP2 and FATP4 in human trophoblasts, mouse Fatp2 and Fatp4 are not essential for intrauterine fetal growth. PMID: 22028793
    13. Mutation in FATP4 in a patient with self-healing congenital verruciform hyperkeratosis.( PMID: 20815031
    14. findings propose fatty acid transport protein 4 as a candidate gene for the insulin resistance syndrome PMID: 14715877
    15. intra-pair correlations revealed that FATP4 expression was significantly up-regulated in acquired obesity." PMID: 15168018
    16. Data suggest that endogenous FATP4 does not function to translocate fatty acids across the plasma membrane, but functions more as a very long-chain acyl-CoA synthetase. PMID: 17901542
    17. Mutations in FATP4 gene cause the ichthyosis prematurity syndrome. PMID: 19631310

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  • 相关疾病：
    Ichthyosis prematurity syndrome (IPS)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族：
    ATP-dependent AMP-binding enzyme family
  • 组织特异性：
    Expressed at highest levels in brain, testis, colon and kidney. Expressed at medium levels in heart and liver, small intestine and stomach. Expressed at low levels in peripheral leukocytes, bone marrow, skeletal muscle and aorta. Expressed in adipose tiss
  • 数据库链接：

    HGNC: 10998

    OMIM: 604194

    KEGG: hsa:10999

    STRING: 9606.ENSP00000300456

    UniGene: Hs.656699