HMGCS2 Antibody, Biotin conjugated (PACO56835)
- SKU:
- PACO56835
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- Biotin
Frequently bought together:
Description
抗体名: | HMGCS2 Antibody, Biotin conjugated (PACO56835) |
抗体コード: | PACO56835 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA |
推奨される希釈: | |
反応性: | Human |
免疫原: | Recombinant Human Hydroxymethylglutaryl-CoA synthase, mitochondrial protein (426-508AA) |
憲法: | Liquid |
ストレージバッファ: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 |
精製方法: | >95%, Protein G purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Biotin |
バックグラウンド: | This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase. |
シノニム: | Hydroxymethylglutaryl-CoA synthase, mitochondrial (HMG-CoA synthase) (EC 2.3.3.10) (3-hydroxy-3-methylglutaryl coenzyme A synthase), HMGCS2 |
UniProt Protein Function: | HMGCS2: This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase. Defects in HMGCS2 are the cause of HMG-CoA synthase deficiency (HMGCS deficiency); also known as deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2. Affected individuals present with severe hypoketotic hypoglycemia, mild hepatomegaly, or fatty liver, and a nondiagnostic pattern of urinary organic acids with increase of medium and short chain dicarboxylic acids. Belongs to the HMG-CoA synthase family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Transferase; Mitochondrial; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 2.3.3.10; Carbohydrate Metabolism - butanoate; Secondary Metabolites Metabolism - terpenoid backbone biosynthesis; Lipid Metabolism - synthesis and degradation of ketone bodies Chromosomal Location of Human Ortholog: 1p13-p12 Cellular Component: mitochondrial matrix; mitochondrion Molecular Function:hydroxymethylglutaryl-CoA synthase activity Biological Process: ketone body biosynthetic process Disease: 3-hydroxy-3-methylglutaryl-coa Synthase 2 Deficiency |
NCBI Summary: | The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] |
UniProt Code: | P54868 |
NCBI GenInfo Identifier: | 1708234 |
NCBI Gene ID: | 3158 |
NCBI Accession: | P54868.1 |
UniProt Secondary Accession: | P54868,Q5SZU2, Q6IBF4, B7Z8R3, D3Y5K6, |
UniProt Related Accession: | P54868 |
Molecular Weight: | 50,050 Da |
NCBI Full Name: | Hydroxymethylglutaryl-CoA synthase, mitochondrial |
NCBI Synonym Full Names: | 3-hydroxy-3-methylglutaryl-CoA synthase 2 |
NCBI Official Symbol: | HMGCS2 |
NCBI Protein Information: | hydroxymethylglutaryl-CoA synthase, mitochondrial |
UniProt Protein Name: | Hydroxymethylglutaryl-CoA synthase, mitochondrial |
UniProt Synonym Protein Names: | 3-hydroxy-3-methylglutaryl coenzyme A synthase |
UniProt Gene Name: | HMGCS2 |
UniProt Entry Name: | HMCS2_HUMAN |