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Synthetic peptide
- SPECIFICATION
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- PROTOCOLS
- BACKGROUND
| Primary Accession | Q9Y276 |
|---|---|
| Clone Names | 100712010 |
| Peptide ID | 100712010 |
| Gene ID | 617 |
|---|---|
| Other Names | Mitochondrial chaperone BCS1, h-BCS1, BCS1-like protein, BCS1L, BCS1 |
| Format | Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | BCS1L |
|---|---|
| Synonyms | BCS1 |
| Function | 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. |
| Cellular Location | Mitochondrion inner membrane; Single- pass membrane protein |
| Tissue Location | Ubiquitous.. |
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Background
This gene encodes a homolog of the S. cerevisiae bcs1protein which is involved in the assembly of complex III of themitochondrial respiratory chain. The encoded protein does notcontain a mitochondrial targeting sequence but experimental studiesconfirm that it is imported into mitochondria. Mutations in thisgene are associated with mitochondrial complex III deficiency andthe GRACILE syndrome. Two alternatively spliced transcriptsencoding the same protein have been described. [provided byRefSeq].
References
Moran, M., et al. Hum. Mutat. 31(8):930-941(2010)Gil-Borlado, M.C., et al. Mitochondrion 9(5):299-305(2009)Ramos-Arroyo, M.A., et al. Clin. Genet. 75(6):585-587(2009)Blazquez, A., et al. Neuromuscul. Disord. 19(2):143-146(2009)Tamai, S., et al. J. Cell. Sci. 121 (PT 15), 2588-2600 (2008) :
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