CIRH1A

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Cirrhosis, autosomal recessive 1A (cirhin)
Identifiers
Symbol(s) CIRH1A; CIRHIN; FLJ14728; KIAA1988; NAIC; TEX292
External IDs OMIM: 607456 MGI: 1096573 HomoloGene: 40775
Orthologs
Human Mouse
Entrez 84916 21771
Ensembl ENSG00000141076 ENSMUSG00000041438
Uniprot Q969X6 Q3UJY3
Refseq NM_032830 (mRNA)
NP_116219 (protein)		 NM_011574 (mRNA)
NP_035704 (protein)
Location Chr 16: 67.72 - 67.76 Mb Chr 8: 109.78 - 109.81 Mb
Pubmed search [1] [2]

Cirrhosis, autosomal recessive 1A (cirhin), also known as CIRH1A, is a human gene.[1] It has been associated with Indian childhood cirrhosis, a form of cirrhosis of the liver occuring in American Indian children.[2]


[edit] References

  1. ^ Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin).
  2. ^ 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. PMID 12417987.  Full text at PMC: 378590

[edit] Further reading

  • López-Fernández LA, del Mazo J (1996). "Characterization of genes expressed early in mouse spermatogenesis, isolated from a subtractive cDNA library.". Mamm. Genome 7 (9): 698–700. PMID 8703127. 
  • Bétard C, Rasquin-Weber A, Brewer C, et al. (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. PMID 10820129. 
  • Nagase T, Kikuno R, Ohara O (2002). "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 (6): 319–27. PMID 11853319. 
  • Scherl A, Couté Y, Déon C, et al. (2003). "Functional proteomic analysis of human nucleolus.". Mol. Biol. Cell 13 (11): 4100–9. doi:10.1091/mbc.E02-05-0271. PMID 12429849. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics.". Nature 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413. 
  • Yu B, Mitchell GA, Richter A (2006). "Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.". Exp. Cell Res. 311 (2): 218–28. doi:10.1016/j.yexcr.2005.08.012. PMID 16225863. 
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