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Cirrhosis, Autosomal Recessive 1A (CIRH1A)

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CIRHIN; NAIC; TEX292

Cirrhosis, Autosomal Recessive 1A (CIRH1A)
CCC L343
HGNC 1983
MGI 1096573
PubMed 24147052
RGD 1311341
UniProt Q969X6
Wiki CIRH1A
Cirhin has been associated with Indian childhood cirrhosis, a form of cirrhosis of the liver occurring in American Indian children.deduced 362-amino acid protein contains a WD domain/G-beta repeat, suggesting that it functions in cell signaling. RT-PCR followed by ELISA detected moderate to high expression in all tissues and brain regions examined, with highest expression in adult and fetal liver.CIRH1A gene has 17 exons and spans 36.3 kb of genomic sequence.
It typically presents with transient neonatal jaundice in a child who is otherwise healthy and progresses to biliary cirrhosis and portal hypertension. Liver transplantation has been the only effective therapy for patients with advanced disease.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cirrhosis, Autosomal Recessive 1A (CIRH1A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cirrhosis, Autosomal Recessive 1A (CIRH1A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cirrhosis, Autosomal Recessive 1A (CIRH1A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cirrhosis, Autosomal Recessive 1A (CIRH1A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cirrhosis, Autosomal Recessive 1A (CIRH1A) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cirrhosis, Autosomal Recessive 1A (CIRH1A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cirrhosis, Autosomal Recessive 1A (CIRH1A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cirrhosis, Autosomal Recessive 1A (CIRH1A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cirrhosis, Autosomal Recessive 1A (CIRH1A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cirrhosis, Autosomal Recessive 1A (CIRH1A) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cirrhosis, Autosomal Recessive 1A (CIRH1A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cirrhosis, Autosomal Recessive 1A (CIRH1A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cirrhosis, Autosomal Recessive 1A (CIRH1A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cirrhosis, Autosomal Recessive 1A (CIRH1A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cirrhosis, Autosomal Recessive 1A (CIRH1A) ELISA Kit Customized Service Offer
  1. "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Functional proteomic analysis of human nucleolus."Mol. Biol. Cell 13:4100-4109(2002) [PubMed] [Europe PMC] [Abstract]
  5. "Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis."Exp. Cell Res. 311:218-228(2005) [PubMed] [Europe PMC] [Abstract]
  6. "Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1."Exp. Cell Res. 315:3086-3098(2009) [PubMed] [Europe PMC] [Abstract]
  7. "NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing."PLoS Genet. 8:E1002892-E1002892(2012) [PubMed] [Europe PMC] [Abstract]
  8. "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis."Am. J. Hum. Genet. 71:1443-1449(2002) [PubMed] [Europe PMC] [Abstract]