• 靶点：
• CIR1A

• 简介：
• >>Ribosome biogenesis in eukaryotes

• 基因名称：
• CIRH1A KIAA1988

• 蛋白名称：
• CIR1A

• Human Gene Id：
• 84916

• Human Swiss Prot No：
• Q969X6

• Mouse Gene Id：
• 21771

• Mouse Swiss Prot No：
• Q8R2N2

• 免疫原：
• Synthesized peptide derived from human CIR1A AA range: 313-363

• 特异性：
• This antibody detects endogenous levels of CIR1A at Human/Mouse

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• WB 1：500-2000

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 分子量：
• 75kD

• 背景：
• This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016],

• 功能：
• disease:Defects in CIRH1A are the cause of North American Indian childhood cirrhosis (NAIC) [MIM:604901]. 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.,similarity:Contains 11 WD repeats.,

• 细胞定位：
• Nucleus, nucleolus . Chromosome . Found predominantly at the fibrillar center. .

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