ACSF3 Antibody, HRP conjugated (PACO46579)
- SKU:
- PACO46579
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- HRP
Frequently bought together:
Description
抗体名: | ACSF3 Antibody, HRP conjugated (PACO46579) |
抗体コード: | PACO46579 |
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 Acyl-CoA synthetase family member 3, mitochondrial protein (365-484AA) |
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: | HRP |
バックグラウンド: | Catalyzes the initial reaction in intramitochondrial fatty acid, synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates. |
シノニム: | Acyl-CoA synthetase family member 3, mitochondrial (EC 6.2.1), ACSF3 |
UniProt Protein Function: | ACSF3: Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates. Defects in ACSF3 are the cause of combined malonic and methylmalonic aciduria (CMAMMA). A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline. Belongs to the ATP-dependent AMP-binding enzyme family. |
UniProt Protein Details: | Protein type:Ligase; EC 6.2.1.-; EC 6.-.-.- Chromosomal Location of Human Ortholog: 16q24.3 Cellular Component: mitochondrion Molecular Function:acid-thiol ligase activity; ATP binding Biological Process: fatty acid metabolic process; fatty acid biosynthetic process Disease: Combined Malonic And Methylmalonic Aciduria |
NCBI Summary: | This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013] |
UniProt Code: | Q4G176 |
NCBI GenInfo Identifier: | 187761345 |
NCBI Gene ID: | 197322 |
NCBI Accession: | NP_001120686.1 |
UniProt Secondary Accession: | Q4G176,Q6INA0, Q8N2F7, A8K4J8, C9JQL6, |
UniProt Related Accession: | Q4G176 |
Molecular Weight: | 64,130 Da |
NCBI Full Name: | acyl-CoA synthetase family member 3, mitochondrial isoform 1 |
NCBI Synonym Full Names: | acyl-CoA synthetase family member 3 |
NCBI Official Symbol: | ACSF3 |
NCBI Protein Information: | acyl-CoA synthetase family member 3, mitochondrial; malonyl-CoA synthetase |
UniProt Protein Name: | Acyl-CoA synthetase family member 3, mitochondrial |
Protein Family: | Acyl-CoA synthetase family |
UniProt Gene Name: | ACSF3 |
UniProt Entry Name: | ACSF3_HUMAN |