| 產(chǎn)品編號(hào) | bs-4038R-BF594 |
| 英文名稱1 | Rabbit Anti-SLC25A13/BF594 Conjugated antibody |
| 中文名稱 | BF594標(biāo)記的線粒體內(nèi)鈣結(jié)合天冬氨酸/谷氨酸載體蛋白抗體 |
| 別 名 | ARALAR2; Calcium binding mitochondrial carrier protein Aralar2; Citrin; CTLN2; Ctrn; Mitochondrial aspartate glutamate carrier 2; RGD1565889; Solute carrier family 25 (citrin) member 13; Solute carrier family 25 member 13 (citrin); Solute carrier family 25 member 13; AI785475; CMC2_HUMAN. |
| 規(guī)格價(jià)格 | 100ul/2980元 購(gòu)買 大包裝/詢價(jià) |
| 說 明 書 | 100ul |
| 研究領(lǐng)域 | 腫瘤 細(xì)胞生物 免疫學(xué) 神經(jīng)生物學(xué) 結(jié)合蛋白 線粒體 |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | |
| 產(chǎn)品應(yīng)用 | ICC=1:50-200 IF=1:50-200
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 74kDa |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human SLC25A13 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 儲(chǔ) 存 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. |
| 保存條件 | 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. |
| 產(chǎn)品介紹 |
background: SLC25A13 is a member of the mitochondrial carrier family. It contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. It catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in the SLC25A13 gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. Subcellular Location: Mitochondrion inner membrane; Multi-pass membrane protein. Tissue Specificity: High levels in liver and low levels in kidney, pancreas, placenta, heart and brain. DISEASE: Defects in SLC25A13 are the cause of citrullinemia type 2 (CTLN2) [MIM:603471]. Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. Defects in SLC25A13 are the cause of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) [MIM:605814]. NICCD is a form of citrullinemia type 2 with neonatal onset. NICCD is characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. NICCD is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. Similarity: Belongs to the mitochondrial carrier family. Contains 4 EF-hand domains. Contains 3 Solcar repeats. Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. Citrin是一種線粒體內(nèi)鈣結(jié)合天冬氨酸/谷氨酸載體(Aspartate/ Glutamate Carrier, AGC)蛋白，在尿素循環(huán)及其他代謝過程中發(fā)揮重要作用。Citrin缺乏癥包含成年發(fā)作Ⅱ型 瓜氨酸血癥(Adult Onset Type Ⅱ Citrullinemia , CTLN2)和Citrin缺乏所致新生兒肝內(nèi)膽汁淤積癥( Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency, NICCD)兩種不同表型，為常染色體隱性遺傳。 Citrin分子量約為74kDa，含675個(gè)氨基酸，在肝臟、腎臟及心臟中均有表達(dá)，位于線粒體內(nèi)膜。Citrin的N端有4個(gè)EF手型結(jié)構(gòu)域，可結(jié)合鈣離子，C端作為線粒體載體活性部位有6個(gè)跨膜結(jié)構(gòu)。研究還發(fā)現(xiàn)，Citrin的類似物－Aralar，同為天冬氨酸/谷氨酸載體蛋白，雖氨基酸序列與Citrin有77.8%的同源性，但組織分布明顯不同，Citrin主要在肝臟而Aralar 主要在骨骼肌和腦中表達(dá)，提示Citrin缺乏癥是一種局限于肝臟的疾病。 Citrin作為肝內(nèi)主要的天冬氨酸/谷氨酸載體蛋白，其功能有3方面； 其一，將線粒體中天冬氨酸轉(zhuǎn)運(yùn)至胞漿中，參與尿素、蛋白和核酸的合成。 其二，將天冬氨酸轉(zhuǎn)運(yùn)至胞漿，作為蘋果酸/天冬氨酸穿梭的一個(gè)環(huán)節(jié)，將胞漿中糖酵解生成的NADH還原當(dāng)量運(yùn)至線粒體內(nèi)，參與能量、氨基酸、糖和脂代謝。 其三，在NADH形成及利用的同時(shí)促進(jìn)乳糖糖異生。 CTLN2患者多死于腦水腫，腦損傷機(jī)制尚不明確，高血氨并非唯一致病因素，局部缺血、能量耗竭、神經(jīng)毒性及代謝失調(diào)引起氧化應(yīng)激反應(yīng)，均可加速腦損傷。CTLN2患者多并發(fā)肝臟腫瘤，其中大部分為肝細(xì)胞癌 。體外研究提示瓜氨酸的積聚對(duì)肝細(xì)胞的增生有促進(jìn)作用，游離脂肪酸聚集造成的氧化應(yīng)激和脂質(zhì)過氧化反應(yīng)對(duì)腫瘤發(fā)生也有重要作用。 |
