CIRH1A

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Cirrhosis, autosomal recessive 1A (cirhin)
Identifiers
Symbols CIRH1A ; CIRHIN; NAIC; TEX292; UTP4
External IDs OMIM607456 MGI1096573 HomoloGene40775 GeneCards: CIRH1A Gene
Orthologs
Species Human Mouse
Entrez 84916 21771
Ensembl ENSG00000141076 ENSMUSG00000041438
UniProt Q969X6 Q8R2N2
RefSeq (mRNA) NM_032830 NM_011574
RefSeq (protein) NP_116219 NP_035704
Location (UCSC) Chr 16:
69.17 – 69.27 Mb
Chr 8:
106.89 – 106.92 Mb
PubMed search [1] [2]

Cirhin is a protein that in humans is encoded by the CIRH1A gene.[1][2][3] It has been associated with North American Indian childhood cirrhosis (not to be confused with Indian Childhood Cirrhosis which has greatly decreased over the past 100 years and was thought to be secondary to the use of various herbal remedies), a form of cirrhosis of the liver occurring in American Indian children.[4]


References[edit]

  1. ^ Betard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA (Aug 2000). "Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype". Am J Hum Genet 67 (1): 222–8. doi:10.1086/302993. PMC 1287080. PMID 10820129. 
  2. ^ Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (Nov 2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis". Am J Hum Genet 71 (6): 1443–9. doi:10.1086/344580. PMC 378590. PMID 12417987. 
  3. ^ "Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin)". 
  4. ^ Chagnon P, Michaud J, Mitchell G, et al. (2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis". Am. J. Hum. Genet. 71 (6): 1443–9. doi:10.1086/344580. PMC 378590. PMID 12417987. 

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