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HMGCL Antibody

  • 货号：
    CSB-PA010563GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P35914
  • 基因名：
    HMGCL
  • 别名：
    3 hydroxy 3 methylglutaryl CoA lyase antibody; 3 hydroxy 3 methylglutaryl Coenzyme A lyase antibody; 3 hydroxymethyl 3 methylglutaryl Coenzyme A lyase (hydroxymethylglutaricaciduria) antibody; 3 hydroxymethyl 3 methylglutaryl Coenzyme A lyase antibody; 3-hydroxy-3-methylglutarate-CoA lyase antibody; HL antibody; HMG CoA lyase antibody; HMG CoA Lyase Deficiency antibody; HMG-CoA lyase antibody; HMGCL antibody; HMGCL_HUMAN antibody; Hydroxymethylglutaricaciduria antibody; Hydroxymethylglutaryl CoA lyase antibody; Hydroxymethylglutaryl CoA lyase mitochondrial antibody; Hydroxymethylglutaryl-CoA lyase antibody; Mitochondrial 3 hydroxy 3 methylglutaryl CoA lyase antibody; mitochondrial antibody; MS725 antibody; OTTHUMP00000044830 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human HMGCL
  • 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：
    Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism.
  • 基因功能参考文献：
    1. Data suggest that HMGCS1 (HMG-CoA synthase 1) signals through ketogenesis/acetoacetate to promote cell proliferation and BRAF(V600E)-dependent MEK1 activation in BRAF(V600E)-positive melanoma and colon cancer cells; HMGCS1 co-localizes with HMGCL (HMG-CoA lyase) and BRAF(V600E) in cytosol of melanoma and colon cancer cells. (BRAF = proto-oncogene protein B-raf) PMID: 28468827
    2. The genetic analysis revealed a novel homozygote deletion in exon 3 and 4 in HMGCL gene. HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests, noncompaction left ventricle and characteristic white matter changes and in the differential diagnosis of macrocephaly. PMID: 25708061
    3. this is the first study describing HMGCL deficiency caused by uniparental disomy. PMID: 25872961
    4. This efficient UPLC-MS/MS assay permits rapid and high sensitive determination of HMGCR enzyme activity, tracing potential alterations in cholesterol biosynthesis. PMID: 24333427
    5. in the 2 stop codon mutations c.109G>T and c.504_505delCT studied, the stop codon does not appear to be the cause of aberrant splicing; the mutation c.504_505delCT causes 2 mRNA transcripts with a stop codon that generate two simultaneous nonsense-mediated mRNA decay phenomena PMID: 23465862
    6. analysis of HMGCLL1 as an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase and comparison with MHGCL PMID: 22865860
    7. An alternative transcript of HMGCS2 carrying a deletion of exon 4, and two alternative transcripts of HMGCL with deletions of exons 5 and 6, and exons 5, 6 and 7, respectively, were detected. PMID: 21952825
    8. levels of enzyme activity do not strongly correlate with formation of inter-subunit adducts by HMGCL mutants. C170S, C266S, and C323S proteins do not form inter-subunit disulfide adducts but such an adduct is restored in the C170S/C174S double mutant. PMID: 21514269
    9. Crystal structures of ternary complexes of WT HMGCL with the competitive inhibitor 3-hydroxyglutaryl-CoA and of the catalytically deficient HMGCL R41M mutant with substrate HMG-CoA have been determined to 2.4 and 2.2 A. PMID: 20558737
    10. We report on a new case of 3-hydroxy-3-methylglutaric aciduria particular by its late onset in a 3-year-old patient. Molecular investigation identified two new sequence modifications in the HMGCL gene: c.494G>A (p.Arg165Gln) and c.820G>A (p.Gly274Arg). PMID: 19932602
    11. The peroxisomal enzyme forms a covalently linked dimeric species upon crosslinking with dibromopropanone or o-phenylenedimaleimide . Cysteine-323 is required for intersubunit covalent crosslinking. PMID: 12464283
    12. A role is suggested for arginine-41 in deprotonation or enolization of acetyldithio-CoA, implicating this residue in the HMG-CoA cleavage reaction chemistry that leads to acetyl-CoA product formation. PMID: 15122894
    13. Data describe the DNA mutational analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. PMID: 15164951
    14. Exon 2 of HL skipping led to the loss of beta-sheet 1, and the skipping of exons 2 and 3 caused the disappearance of alpha helix 1 and beta-sheets 1 and 2 PMID: 15752612
    15. Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase PMID: 16330550
    16. findings of common mutations in HMGCL have direct implications on rapid molecular diagnosis, prenatal and pre-implantation diagnosis and population based prevention programs directed towards 3HMG in Saudi Arabia. PMID: 17173698
    17. HMG-CoA located on the surface of the enzyme implicates Asn(311) and Lys(313) in substrate binding by establishing polar contacts with phosphate and ribose groups of adenosine, and Lys(48) by contacting the carboxyl group of the panthotenic acid moiety. PMID: 17459752
    18. The unique HMGCL gene mutations exist in Taiwanese 3-hydroxy-3-methylglutaryl CoA lyase deficiency deficiency patients. PMID: 19036343
    19. Finding that all identified missense mutations cause a >95% decrease in the enzyme activity, indicates that the disease appears only in very severe genotypes. PMID: 19177531

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  • 相关疾病：
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
  • 亚细胞定位：
    Mitochondrion matrix. Peroxisome.
  • 蛋白家族：
    HMG-CoA lyase family
  • 组织特异性：
    Highest expression in liver. Expressed in pancreas, kidney, intestine, testis, fibroblasts and lymphoblasts. Very low expression in brain and skeletal muscle. The relative expression of isoform 2 (at mRNA level) is highest in heart (30%), skeletal muscle
  • 数据库链接：

    HGNC: 5005

    OMIM: 246450

    KEGG: hsa:3155

    STRING: 9606.ENSP00000363614

    UniGene: Hs.533444