Anti-BCS1L 抗体 (CAB7647)

抗体名:	Anti-BCS1L Antibody
抗体コード:	CAB7647
抗体サイズ:	20uL, 50uL, 100uL
申し込み:	WB IHC IF
反応性:	Human, Mouse, Rat
宿主種:	Rabbit
免疫原:	Recombinant fusion protein containing a sequence corresponding to amino acids 33-240 of human BCS1L (NP_004319.1).

申し込み:	WB IHC IF
推奨希釈:	WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200
反応性:	Human, Mouse, Rat
ポジティブサンプル:	HepG2, SKOV3, MCF7, HeLa, Mouse heart, Mouse liver

免疫原:	Recombinant fusion protein containing a sequence corresponding to amino acids 33-240 of human BCS1L (NP_004319.1).
精製方法:	Affinity purification
ストレージバッファ:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
アイソタイプ:	IgG
順序:	RKGV QLGL VAFR RHYM ITLE VPAR DRSY AWLL SWLT RHST RTQH LSVE TSYL QHES GRIS TKFE FVPS PGNH FIWY RGKW IRVE RSRE MQMI DLQT GTPW ESVT FTAL GTDR KVFF NILE EARE LALQ QEEG KTVM YTAV GSEW RPFG YPRR RRPL NSVV LQQG LADR IVRD VQEF IDNP KWYT DRGI PYRR GYLL YGPP GCGK SSFI
遺伝子ID:	617
Uniprot:	Q9Y276
セルラーロケーション:	Mitochondrion inner membrane, Single-pass membrane protein
計算された分子量:	47kDa
観察された分子量:	48kDa

同義語:

BCS1L, BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1

バックグラウンド:

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.

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

	Western blot analysis of extracts of various cell lines, using BCS1L antibody (CAB7647) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s.
	Immunohistochemistry of paraffin-embedded human stomach using BCS1L antibody (CAB7647) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded rat brain using BCS1L antibody (CAB7647) at dilution of 1:100 (40x lens).
	Immunofluorescence analysis of U2OS cells using BCS1L antibody (CAB7647) at dilution of 1:100. Blue: DAPI for nuclear staining.

Antibodies

BCS1L Antibody (PACO08000)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)