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  4. HADH Antibody

HADH Antibody

  • 中文名稱：
    HADH兔多克隆抗體
  • 貨號(hào)：
    CSB-PA010117GA01HU
  • 規(guī)格：
    ￥3,900
  • 其他：

產(chǎn)品詳情

  • Uniprot No.：
  • 基因名：
    HADH
  • 別名：
    3 hydroxyacyl Coenzyme A dehydrogenase antibody; HAD antibody; HADH antibody; HADH1 antibody; HADHSC antibody; HADHSC, formerly antibody; HADSC, formerly antibody; HCDH antibody; HCDH_HUMAN antibody; HHF4 antibody; Hydroxyacyl CoA dehydrogenase antibody; Hydroxyacyl-coenzyme A dehydrogenase antibody; hydroxyacyl-coenzyme A dehydrogenase, mitochondrial antibody; L 3 hydroxyacyl Coenzyme A dehydrogenase short chain antibody; M SCHAD antibody; Medium and short chain L 3 hydroxyacyl coenzyme A dehydrogenase antibody; Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase antibody; MGC8392 antibody; mitochondrial antibody; MSCHAD antibody; OTTHUMP00000162626 antibody; OTTHUMP00000219688 antibody; SCHAD antibody; SCHAD, formerly antibody; Short chain 3 hydroxyacyl CoA dehydrogenase mitochondrial antibody; short chain 3-hydroxyacyl-coa dehydrogenase antibody; Short-chain 3-hydroxyacyl-CoA dehydrogenase antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human HADH
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA,WB,IHC
  • Protocols：
  • 儲(chǔ)存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10). Plays a role in the control of insulin secretion by inhibiting the activation of glutamate dehydrogenase 1 (GLUD1), an enzyme that has an important role in regulating amino acid-induced insulin secretion.
  • 基因功能參考文獻(xiàn)：
    1. The most frequently seen mutations in Turkish patients with congenital hyperinsulinism (CHI) were ATP binding cassette subfamily C member 8 (ABCC8) gene, followed by 3-hydroxyacyl CoA dehydrogenase (HADH) and kcnj11 channel (KCNJ11) genes. PMID: 27181376
    2. Paretic muscle in hemiparetic stroke survivors had lower HAD concentration. PMID: 26361074
    3. We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression PMID: 26316438
    4. in a cohort of hyperinsulinemic hypoglycemia patients from Isfahan, Iran, 78% were noted to have disease-causing mutations: 48% had HADH mutations and 26% had ABCC8 mutations. PMID: 26268944
    5. Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. PMID: 23273570
    6. Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause leucine sensitive hyperinsulinaemic hypoglycaemia. PMID: 22583614
    7. Clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. PMID: 21347589
    8. We recommend that HADH sequence analysis is considered in all patients with diazoxide-responsive hyperinsulinemic hypoglycemia when recessive inheritance is suspected PMID: 21252247
    9. Congenital hyperinsulinism due to mutations in HNF4A and HADH. PMID: 20931292
    10. SCHAD deficiency can result in persistent hyperinsulinemic hypoglycemia of infancy PMID: 14693719
    11. Unlikely that variation in HADHSC plays a major role in the pathogenesis of type 2 diabetes in the examined cohorts. PMID: 17065362
    12. This case indicates that mutations of the HADH gene should be sought in hyperinsulinemic patients in whom diffuse form of hyperinsulinemic hypoglycemia. PMID: 19318379
    13. To investigate its function in this catalytic dyad, Glu(170) was replaced with glutamine (E170Q), and the mutant enzyme was characterized. Substrate and cofactor binding were unaffected by the mutation; E170Q exhibited diminished catalytic activity PMID: 11451959
    14. Patients with the G1528C mutation of 3-hyroxyacyl-CoA dehydrogenase exhibit hepatomegaly and steatosis of the liver, as well as accumulation of fat in the myocardium, renal tubules, and skeletal muscle PMID: 9185222

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  • 相關(guān)疾?。?/div>
    3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency); Familial hyperinsulinemic hypoglycemia 4 (HHF4)
  • 亞細(xì)胞定位：
    Mitochondrion matrix.
  • 蛋白家族：
    3-hydroxyacyl-CoA dehydrogenase family
  • 組織特異性：
    Expressed in liver, kidney, pancreas, heart and skeletal muscle.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 4799

    OMIM: 231530

    KEGG: hsa:3033

    UniGene: Hs.438289



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