Anti-Cirhin抗体CIRH1A （cirrhosis, autosomal recessive 1A）, also designated cirhin, NAIC or TEX292, is a 686 amino acid protein that,

产品编号 yb-13958R
英文名称 Anti-Cirhin抗体
中文名称 常染色体隐性遗传肝硬化1A抗体
别    名 CIRH1A; CIRH 1A; Cirhin; Cirrhosis, autosomal recessive 1A (cirhin); FLJ17146; KIAA1988; NAIC; testis expressed gene 292; TEX292; CIR1A_HUMAN.
Anti-Cirhin抗体
说 明 书 0.1ml  0.2ml  
研究领域 肿瘤  细胞生物  染色质和核信号  信号转导  转录调节因子  细菌及病毒  表观遗传学  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Rat, Dog, Horse, 
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （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 77kDa
细胞定位 细胞核 
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human Cirhin
亚    型 IgG
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.

PubMed PubMed
产品介绍 background:
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 approximay 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 1, UTP15, WDR43 and WDR75; within this complex, directly interacts with 1.