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  4. Recombinant Human 3-hydroxyacyl-CoA dehydratase 1 (PTPLA)

Recombinant Human 3-hydroxyacyl-CoA dehydratase 1 (PTPLA)

  • 中文名称：
    人HACD1重组蛋白
  • 货号：
    CSB-CF019018HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    HACD1
  • Uniprot No.：
  • 别名：
    HACD1; PTPLA; Very-long-chain; 3R-3-hydroxyacyl-CoA dehydratase 1; 3-hydroxyacyl-CoA dehydratase 1; HACD1; Cementum-attachment protein; CAP; Protein-tyrosine phosphatase-like member A
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-288
  • 氨基酸序列
    MGRLTEAAAAGSGSRAAGWAGSPPTLLPLSPTSPRCAATMASSDEDGTNGGASEAGEDRE APGERRRLGVLATAWLTFYDIAMTAGWLVLAIAMVRFYMEKGTHRGLYKSIQKTLKFFQT FALLEIVHCLIGIVPTSVIVTGVQVSSRIFMVWLITHSIKPIQNEESVVLFLVAWTVTEI TRYSFYTFSLLDHLPYFIKWARYNFFIILYPVGVAGELLTIYAALPHVKKTGMFSIRLPN KYNVSFDYYYFLLITMASYIPLFPQLYFHMLRQRRKVLHGEVIVEKDD
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.; In tooth development, may play a role in the recruitment and the differentiation of cells that contribute to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum.
  • 基因功能参考文献：
    1. Labrador retrievers carrying two copies of a unique canine HACD1 loss-of-function allele that recently disseminated worldwide, are all affected by a congenital myopathy, confirming its role in muscle development. PMID: 23071563
    2. Longitudinal analyses in myopathic Labrador retrievers reveal several membrane-associated defects, including ultrastructural triads dysmorphogenesis and mitochondrial mislocalization in Labrador retrievers with deficiencies in the canine HACD1 gene. PMID: 27939133
    3. A loss-of-function mutation in the canine ortholog of HACD1 that was identified by genetic mapping in a French pedigree of Labrador retrievers causes a congenital myopathy named centronuclear myopathy (CNM) in Labrador retrievers. PMID: 15829503
    4. Mutations in HACD1 can result in myopathies in humans; knockout mice lacking Hacd1 develop myopathic phenotypes. Data (including data from studies using knockout mice and cultured cells from knockout mice) suggest that HACD1 and HACD2 exhibit overlapping substrate specificities and thus appear to represent redundant activities in skeletal muscle. PMID: 28784662
    5. These data indicate that HACD1 is necessary for muscle function. PMID: 23933735
    6. PTPLA-CAP expression was limited to cementum cells; promoted gingival fibroblast attachment. PTPLA-CAP is splice variant of PTPLA, and that, in the periodontium, cementum and cementum cells express this variant. PMID: 22067203
    7. HACD1 is 3-hydroxyacyl-CoA dehydratase involved in elongation of very long-chain fatty acids. HACD1 (K64Q) exhibits normal enzyme activity, intracellular localization and interaction with other VLCFA enzymes, with no negative effect on VLCFA elongation PMID: 20724468
    8. PTPLA SNPs show genotypic association with Alzheimer disease. PMID: 19241460

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  • 相关疾病：
    Myopathy, congenital, with fiber-type disproportion (CFTD)
  • 亚细胞定位：
    [Isoform 1]: Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Very long-chain fatty acids dehydratase HACD family
  • 组织特异性：
    Isoform 1 is highly expressed in the myocardium, and to a lesser extent in skeletal and smooth muscular tissues including those from stomach, jejunum, and bladder. Also detected in gingival fibroblasts, periodontal ligament cells, osteoblasts and cementob
  • 数据库链接：

    HGNC: 9639

    OMIM: 255310

    KEGG: hsa:9200

    STRING: 9606.ENSP00000355308

    UniGene: Hs.114062