常染色体隐性遗传肝硬化1础抗体
规格：1尘驳/1尘濒
英文名： Cirhin
别名： CIRH1A; CIRH 1A; Cirhin; Cirrhosis, autosomal recessive 1A (cirhin); FLJ17146; KIAA1988; NAIC; testis expressed gene 292; TEX292; CIR1A_HUMAN.
分子量： 77kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Cirhin
交叉反应：Human, Rat, Dog, Horse,
细胞定位：细胞核
常染色体隐性遗传肝硬化1础抗体产物介绍：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 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 常染色体隐性遗传肝硬化1础抗体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,常染色体隐性遗传肝硬化1础抗体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. Gene ID: 84916 Database links: Entrez Gene: 84916 Human Omim: 607456 Human SwissProt: Q969X6 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
常染色体隐性遗传肝硬化1础抗体产物应用：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.
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 **及病毒 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid