Description
| 抗体名: | ISCU Antibody (PACO44439) |
| 抗体コード: | PACO44439 |
| サイズ: | 50ul |
| 宿主種: | Rabbit |
| 申し込み: | ELISA, IHC |
| 推奨される希釈: | ELISA:1:2000-1:10000, IHC:1:20-1:200 |
| 反応性: | Human |
| 免疫原: | Recombinant Human Iron-sulfur cluster assembly enzyme ISCU, mitochondrial protein (1-167AA) |
| 憲法: | Liquid |
| ストレージバッファ: | PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| 精製方法: | Antigen Affinity Purified |
| 抗体のクローン性: | Polyclonal |
| アイソタイプ: | IgG |
| Conjugate: | Non-conjugated |
 | Immunohistochemistry of paraffin-embedded human lung cancer using PACO44439 at dilution of 1:100. |
 | Immunohistochemistry of paraffin-embedded human endometrial cancer using PACO44439 at dilution of 1:100. |
| バックグラウンド: | Scaffold protein for the de novo synthesis of iron-sulfur (Fe-S) clusters within mitochondria, which is required for maturation of both mitochondrial and cytoplasmic [2Fe-2S] and [4Fe-4S] proteins. First, a [2Fe-2S] cluster is transiently assembled on the scaffold protein ISCU. In a second step, the cluster is released from ISCU, transferred to a glutaredoxin GLRX5, followed by the formation of mitochondrial [2Fe-2S] proteins, the synthesis of [4Fe-4S] clusters and their target-specific insertion into the recipient apoproteins. Cluster assembly on ISCU depends on the function of the cysteine desulfurase complex NFS1-LYRM4/ISD11, which serves as the sulfur donor for cluster synthesis, the iron-binding protein frataxin as the putative iron donor, and the electron transfer chain comprised of ferredoxin reductase and ferredoxin, which receive their electrons from NADH (By similarity). |
| シノニム: | Iron-sulfur cluster assembly enzyme ISCU, mitochondrial (NifU-like N-terminal domain-containing protein) (NifU-like protein), ISCU, NIFUN |
| UniProt Protein Function: | ISCU: Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron. Defects in ISCU are the cause of myopathy with exercise intolerance Swedish type (MEIS); also known as myopathy with deficiency of succinate dehydrogenase and aconitase or myoglobinuria due to abnormal glycolysis or hereditary myopathy with lactic acidosis (HML). This autosomal recessive metabolic disease is characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism. Belongs to the NifU family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Mitochondrial Chromosomal Location of Human Ortholog: 12q24.1 Cellular Component: mitochondrion; mitochondrial matrix; cytoplasm; cytosol; nucleus Molecular Function:protein binding; iron ion binding; iron-sulfur cluster binding; protein complex scaffold Biological Process: iron-sulfur cluster assembly; nitrogen fixation Disease: Myopathy With Lactic Acidosis, Hereditary |
| NCBI Summary: | This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016] |
| UniProt Code: | Q9H1K1 |
| NCBI GenInfo Identifier: | 313104118 |
| NCBI Gene ID: | 23479 |
| NCBI Accession: | Q9H1K1.2 |
| UniProt Related Accession: | Q9H1K1 |
| Molecular Weight: | 18kDa |
| NCBI Full Name: | Iron-sulfur cluster assembly enzyme ISCU, mitochondrial |
| NCBI Synonym Full Names: | iron-sulfur cluster assembly enzyme |
| NCBI Official Symbol: | ISCU |
| NCBI Official Synonym Symbols: | HML; ISU2; NIFU; NIFUN; hnifU; 2310020H20Rik |
| NCBI Protein Information: | iron-sulfur cluster assembly enzyme ISCU, mitochondrial |
| UniProt Protein Name: | Iron-sulfur cluster assembly enzyme ISCU, mitochondrial |
| UniProt Synonym Protein Names: | NifU-like N-terminal domain-containing protein; NifU-like protein |
| Protein Family: | Iron-sulfur cluster assembly enzyme |
| UniProt Gene Name: | ISCU |
| UniProt Entry Name: | ISCU_HUMAN |
