NHLRC1

From Wikipedia, the free encyclopedia


NHL repeat containing 1
Identifiers
Symbol(s) NHLRC1; EPM2A; EPM2B; MGC119262; MGC119264; MGC119265; bA204B7.2
External IDs OMIM: 608072 MGI: 2145264 HomoloGene: 18439
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 378884 105193
Ensembl ENSG00000187566 ENSMUSG00000044231
Uniprot Q6VVB1 Q0VF71
Refseq NM_198586 (mRNA)
NP_940988 (protein)		 NM_175340 (mRNA)
NP_780549 (protein)
Location Chr 6: 18.23 - 18.23 Mb Chr 13: 47.02 - 47.03 Mb
Pubmed search [1] [2]

NHL repeat containing 1, also known as NHLRC1, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: NHLRC1 NHL repeat containing 1.

[edit] Further reading

  • 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. 
  • Chan EM, Young EJ, Ianzano L, et al. (2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy.". Nat. Genet. 35 (2): 125-7. doi:10.1038/ng1238. PMID 12958597. 
  • Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805-11. doi:10.1038/nature02055. PMID 14574404. 
  • 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. 
  • Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, et al. (2006). "Lafora disease due to EPM2B mutations: a clinical and genetic study.". Neurology 64 (6): 982-6. doi:10.1212/01.WNL.0000154519.10805.F7. PMID 15781812. 
  • Gentry MS, Worby CA, Dixon JE (2005). "Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.". Proc. Natl. Acad. Sci. U.S.A. 102 (24): 8501-6. doi:10.1073/pnas.0503285102. PMID 15930137. 
  • Lohi H, Ianzano L, Zhao XC, et al. (2006). "Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.". Hum. Mol. Genet. 14 (18): 2727-36. doi:10.1093/hmg/ddi306. PMID 16115820. 
  • Singh S, Sethi I, Francheschetti S, et al. (2007). "Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.". J. Med. Genet. 43 (9): e48. doi:10.1136/jmg.2005.039479. PMID 16950819. 
  • Mittal S, Dubey D, Yamakawa K, Ganesh S (2007). "Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment.". Hum. Mol. Genet. 16 (7): 753-62. doi:10.1093/hmg/ddm006. PMID 17337485. 
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