HMGCL Antibody, FITC conjugated

說(shuō)明書(shū)

中文名稱：

HMGCL兔多克隆抗體, FITC偶聯(lián)
貨號(hào)：

CSB-PA010563LC01HU
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

產(chǎn)品名稱：

Rabbit anti-Homo sapiens (Human) HMGCL Polyclonal antibody
Uniprot No.：

P35914
基因名：

HMGCL
別名：

Hydroxymethylglutaryl-CoA lyase, mitochondrial (HL) (HMG-CoA lyase) (EC 4.1.3.4) (3-hydroxy-3-methylglutarate-CoA lyase), HMGCL
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human Hydroxymethylglutaryl-CoA lyase, mitochondrial protein (28-325aa)
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產(chǎn)品提供形式：

Liquid
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 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.
基因功能參考文獻(xiàn)：
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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相關(guān)疾病：

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
亞細(xì)胞定位：

Mitochondrion matrix. Peroxisome.
蛋白家族：

HMG-CoA lyase family
組織特異性：

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
數(shù)據(jù)庫(kù)鏈接：

HGNC: 5005

OMIM: 246450

KEGG: hsa:3155

STRING: 9606.ENSP00000363614

UniGene: Hs.533444

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