Product Description

CIR1A Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES17452-50, ES17452-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

Background: 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],

Reactivity: Human, Mouse

Host: Rabbit

Applications: WB

Clonality: Polyclonal

Immunogen: Synthesized peptide derived from human CIR1A AA range: 313-363

Isotype: IgG

Target: CIR1A

Specificity: This antibody detects endogenous levels of CIR1A at Human/Mouse

Dilution: WB 1：500-2000

Purification: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.

Concentration: 1 mg/ml,

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

Molecular Weight (Da): 75kD

Fields: Ribosome biogenesis in eukaryotes

Function: 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

Subcellular Location: Nucleus, nucleolus Chromosome Found predominantly at the fibrillar center

Storage and Stability: -20°C/1 year

Gene Name: CIRH1A KIAA1988

Protein Name: CIR1A

Mouse Gene ID: 21771

Mouse SwissProt Number: Q8R2N2

Research Use Only