CIRH1A

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UTP4
Identifiers
Aliases UTP4, CIRHIN, NAIC, TEX292, CIRH1A, small subunit processome component
External IDs MGI: 1096573 HomoloGene: 40775 GeneCards: UTP4
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032830
NM_001318391

NM_011574

RefSeq (protein)

NP_001305320
NP_116219

NP_035704.2
NP_035704

Location (UCSC) Chr 16: 69.13 – 69.23 Mb Chr 8: 106.89 – 106.92 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Cirhin is a protein that in humans is encoded by the CIRH1A gene.[3][4][5] 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 from the Abitibi region of northern Quebec.[6]


References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 1287080Freely accessible. PMID 10820129. 
  4. ^ 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 378590Freely accessible. PMID 12417987. 
  5. ^ "Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin)". 
  6. ^ 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 378590Freely accessible. PMID 12417987. 

External links[edit]

Further reading[edit]