Description
| 抗体名: | SLC25A15 Antibody (PACO12262) |
| 抗体コード: | PACO12262 |
| サイズ: | 50ul |
| 宿主種: | Rabbit |
| 申し込み: | ELISA, WB, IHC |
| 推奨される希釈: | |
| 反応性: | Human, Mouse, Rat |
| 免疫原: | Human SLC25A15 |
| 憲法: | Liquid |
| ストレージバッファ: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
| 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 |
| シノニム: | solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15;SLC25A15;D13S327;HHH;ORC1;ORNT1 ; |
| UniProt Protein Function: | SLC25A15: Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. Defects in SLC25A15 are the cause of hyperornithinemia- hyperammonemia-homocitrullinuria syndrome (HHH syndrome). It is an autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle. Belongs to the mitochondrial carrier family. |
| UniProt Protein Details: | Protein type:Transporter; Transporter, SLC family; Membrane protein, multi-pass; Mitochondrial; Membrane protein, integral Chromosomal Location of Human Ortholog: 13q14 Cellular Component: mitochondrial inner membrane; integral to membrane Molecular Function:L-ornithine transmembrane transporter activity Biological Process: amino acid metabolic process; mitochondrial ornithine transport; urea cycle Disease: Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome |
| NCBI Summary: | This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009] |
| UniProt Code: | Q9Y619 |
| NCBI GenInfo Identifier: | 20139303 |
| NCBI Gene ID: | 10166 |
| NCBI Accession: | Q9Y619.1 |
| UniProt Related Accession: | Q9Y619 |
| Molecular Weight: | Predicted Molecular Mass: 36.4kDaAccurate Molecular Mass: 33kDa |
| NCBI Full Name: | Mitochondrial ornithine transporter 1 |
| NCBI Synonym Full Names: | solute carrier family 25 member 15 |
| NCBI Official Symbol: | SLC25A15 |
| NCBI Official Synonym Symbols: | HHH; ORC1; ORNT1; LNC-HC; D13S327 |
| NCBI Protein Information: | mitochondrial ornithine transporter 1 |
| UniProt Protein Name: | Mitochondrial ornithine transporter 1 |
| UniProt Synonym Protein Names: | Solute carrier family 25 member 15 |
| UniProt Gene Name: | SLC25A15 |
| UniProt Entry Name: | ORNT1_HUMAN |
