CIRH1A

Cirhin is a protein that in humans is encoded by the CIRH1A gene.[5][6][7] 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.[8]

UTP4
Identifiers
AliasesUTP4, CIRHIN, NAIC, TEX292, CIRH1A, small subunit processome component, UTP4 small subunit processome component
External IDsOMIM: 607456 MGI: 1096573 HomoloGene: 40775 GeneCards: UTP4
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16q22.1Start69,131,291 bp[1]
End69,231,130 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

84916

21771

Ensembl

ENSG00000262788
ENSG00000141076

ENSMUSG00000041438

UniProt

Q969X6

Q8R2N2

RefSeq (mRNA)

NM_032830
NM_001318391

NM_011574
NM_001358982

RefSeq (protein)

NP_001305320
NP_116219

NP_035704
NP_001345911

Location (UCSC)Chr 16: 69.13 – 69.23 MbChr 8: 106.89 – 106.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse


References

  1. ENSG00000141076 GRCh38: Ensembl release 89: ENSG00000262788, ENSG00000141076 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000041438 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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.
  7. "Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin)".
  8. 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. Archived from the original on 2013-02-23.

Further reading


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