Description
| 抗体名: | BCS1L Antibody (PACO08000) |
| 抗体コード: | PACO08000 |
| 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 BCS1L |
| 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: | BCS1-like (yeast);BCS1L;BCS;BCS1;BJS;FLNMS;GRACILE;Hs.6719;PTD;h-BCS ; |
| UniProt Protein Function: | BCS1L: Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex. Defects in BCS1L are the cause of GRACILE syndrome (GRACILE). GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. Defects in BCS1L are a cause of mitochondrial complex III deficiency (MT-C3D). A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. Defects in BCS1L are the cause of Bjoernstad syndrome (BJS). BJS is an autosomal recessive condition characterized by sensorineural hearing loss and pili torti. The hearing loss in BJS is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle, is usually recognized early in childhood. Belongs to the AAA ATPase family. BCS1 subfamily. |
| UniProt Protein Details: | Protein type:Mitochondrial; Membrane protein, integral; Chaperone Chromosomal Location of Human Ortholog: 2q33 Cellular Component: mitochondrion; mitochondrial respiratory chain complex III Molecular Function:protein binding; ATP binding Biological Process: mitochondrial respiratory chain complex I assembly; mitochondrion organization and biogenesis; mitochondrial respiratory chain complex IV assembly Disease: Leigh Syndrome; Gracile Syndrome; Bjornstad Syndrome; Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
| NCBI Summary: | This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016] |
| UniProt Code: | Q9Y276 |
| NCBI GenInfo Identifier: | 46397351 |
| NCBI Gene ID: | 617 |
| NCBI Accession: | Q9Y276.1 |
| UniProt Related Accession: | Q9Y276 |
| Molecular Weight: | ~ 48kDa |
| NCBI Full Name: | Mitochondrial chaperone BCS1 |
| NCBI Synonym Full Names: | BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
| NCBI Official Symbol: | BCS1L |
| NCBI Official Synonym Symbols: | BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; h-BCS1; GRACILE; Hs.6719 |
| NCBI Protein Information: | mitochondrial chaperone BCS1 |
| UniProt Protein Name: | Mitochondrial chaperone BCS1 |
| UniProt Synonym Protein Names: | BCS1-like protein |
| UniProt Gene Name: | BCS1L |
| UniProt Entry Name: | BCS1_HUMAN |
