|别 名||Apoptosis regulating basic protein; Brain protein 44 like protein; CGI129; HSPC040; PNAS115; MPC1_HUMAN.|
|规格价格||100ul/1580元 购买 200ul/2480元 购买 大包装/询价|
|说 明 书||100ul 200ul|
|研究领域||细胞生物 免疫学 神经生物学|
|交叉反应||Human, Mouse, Rat, Chicken, Dog, Cow, Horse, Rabbit, Sheep,|
|产品应用||ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 IF=1:50-200 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
|分 子 量||12kDa|
|性 状||Lyophilized or Liquid|
|免 疫 原||KLH conjugated synthetic peptide derived from human BRP44L:1-80/109|
|纯化方法||affinity purified by Protein A|
|储 存 液||0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.|
|保存条件||Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.|
BRP44L, also known as HSPC040 or CGI-129, is a 109 amino acid mitochondrial protein belonging to the UPF0041 family. The gene that encodes BRP44L maps to human chromosome 6. Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6.
Mediates the uptake of pyruvate into mitochondria.
The functional 150 kDa pyruvate import complex is a heteromer of MPC1 and MPC2 (By similarity).
Mitochondrion inner membrane; Multi-pass membrane protein.
Defects in MPC1 are the cause of mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741]. An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy.
Belongs to the mitochondrial pyruvate carrier (MPC) family.
Entrez Gene: 51660 Human
Entrez Gene: 55951 Mouse
Entrez Gene: 171087 Rat
Omim: 614738 Human
SwissProt: Q9Y5U8 Human
SwissProt: P63030 Mouse
SwissProt: P63031 Rat
Unigene: 172755 Human
Unigene: 288510 Mouse
Unigene: 3718 Rat
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.