| 產(chǎn)品編號 | bs-13958R |
| 英文名稱 | Rabbit Anti-Cirhin antibody |
| 中文名稱 | 常染色體隱性遺傳肝硬化1A抗體 |
| 別 名 | CIRH1A; CIRH 1A; Cirhin; Cirrhosis, autosomal recessive 1A (cirhin); FLJ17146; KIAA1988; NAIC; testis expressed gene 292; TEX292; CIR1A_HUMAN. |
| 研究領(lǐng)域 | 腫瘤 細(xì)胞生物 染色質(zhì)和核信號 信號轉(zhuǎn)導(dǎo) 轉(zhuǎn)錄調(diào)節(jié)因子 細(xì)菌及病毒 表觀遺傳學(xué) |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | (predicted: Human,Rat,Dog,Horse) |
| 產(chǎn)品應(yīng)用 | IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=1:100-500,IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 理論分子量 | 77kDa |
| 細(xì)胞定位 | 細(xì)胞核 |
| 性 狀 | Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human Cirhin: 221-320/686 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 緩 沖 液 | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| 保存條件 | Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
| 注意事項 | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| PubMed | PubMed |
| 產(chǎn)品介紹 |
CIRH1A (cirrhosis, autosomal recessive 1A), also designated cirhin, NAIC or TEX292, is a 686 amino acid protein that, when mutated, causes a severe autosomal recessive intrahepatic cholestasis known as North American Indian childhood cirrhosis (NAIC). NAIC is found in aboriginal children from northwestern Quebec, and is characterized by transient neonatal jaundice which progresses to biliary cirrhosis, portal hypertension and periportal fibrosis during childhood and adolescence. Localizing to nucleolus, CIRH1A contains eleven WD repeats, exists as three alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 16q22.1. Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. Function: Defects in Cirhin are the cause of North American Indian childhood cirrhosis. NAIC is a severe autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology. Subunit: Interacts with HIVEP1. Forms a complex with NOL11, UTP15, WDR43 and WDR75; within this complex, directly interacts with NOL11. Subcellular Location: Nucleus; nucleolus DISEASE: North American Indian childhood cirrhosis (NAIC) [MIM:604901]: Severe autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology. Note=The disease is caused by mutations affecting the gene represented in this entry. Similarity: Contains 11 WD repeats. SWISS: Q969X6 Gene ID: 84916 Database links: Entrez Gene: 84916 Human Omim: 607456 Human SwissProt: Q969X6 Human |
