Mitochondrial chaperone BCS1 (BCS1L) Recombinant Protein | BCS1L recombinant protein
Recombinant Human Mitochondrial chaperone BCS1 (BCS1L)
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.
NCBI and Uniprot Product Information
NCBI Description
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 Description
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.
Protein type: Membrane protein, integral; Mitochondrial; Chaperone
Chromosomal Location of Human Ortholog: 2q33
Cellular Component: mitochondrial respiratory chain complex III; mitochondrion
Molecular Function: ATP binding; protein binding
Biological Process: mitochondrial respiratory chain complex I assembly; mitochondrial respiratory chain complex IV assembly; mitochondrion organization and biogenesis
Disease: Bjornstad Syndrome; Gracile Syndrome; Leigh Syndrome; Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Research Articles on BCS1L
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Product Notes
The BCS1L bcs1l (Catalog #AAA7010339) is a Recombinant Protein produced from Cell Free Expression and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 1-419aa; full length protein. This is a recombinant transmembrane protein expressed in a cell-free expression system. Researchers should empirically determine the suitability of the BCS1L bcs1l for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT LEVPARDRSY AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS PGNHFIWYRG KWIRVERSRE MQMIDLQTGT PWESVTFTAL GTDRKVFFNI LEEARELALQ QEEGKTVMYT AVGSEWRPFG YPRRRRPLNS VVLQQGLADR IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI TALAGELEHS ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK EYVGYCSHWQ LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF MLYKNDPVGA IHNAESLRR. It is sometimes possible for the material contained within the vial of "Mitochondrial chaperone BCS1 (BCS1L), Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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