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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

LDLRAD4  -  low density lipoprotein receptor class A...

Homo sapiens

Synonyms: C18orf1, Low-density lipoprotein receptor class A domain-containing protein 4
 
 
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High impact information on C18orf1

  • Two-step association analyses of the chromosome 18p11.2 region in schizophrenia detect a locus encompassing C18orf1 [1].
  • In LDLR, LDLRA has been shown to be involved in binding Ca2+ and LDL, raising the possibility that C18orf1 might bind Ca2+ and an unknown ligand [2].
  • Multiple transcriptional variants and RNA editing in C18orf1, a novel gene with LDLRA and transmembrane domains on 18p11.2 [2].
  • In the present study, we screened the C18orf1 gene for mutations and identified a novel single nucleotide polymorphism (SNP), -96T>C in exon 2 [3].
  • Recently, we reported a distortion of transmission of the tandem repeat marker D18S852, embedded in the 3'-untranslated region of C18orf1, in schizophrenia, using a family-based association test [3].
 

Biological context of C18orf1

  • A subsequent case-control study also revealed a significant association between the haplotype constructed from D18S852 and the 6409T>C polymorphism located in C18orf1 and schizophrenia [3].

References

  1. Two-step association analyses of the chromosome 18p11.2 region in schizophrenia detect a locus encompassing C18orf1. Kikuchi, M., Yamada, K., Toyota, T., Itokawa, M., Hattori, E., Yoshitsugu, K., Shimizu, H., Yoshikawa, T. Mol. Psychiatry (2003) [Pubmed]
  2. Multiple transcriptional variants and RNA editing in C18orf1, a novel gene with LDLRA and transmembrane domains on 18p11.2. Yoshikawa, T., Sanders, A.R., Esterling, L.E., Detera-Wadleigh, S.D. Genomics (1998) [Pubmed]
  3. C18orf1 located on chromosome 18p11.2 may confer susceptibility to schizophrenia. Kikuchi, M., Yamada, K., Toyota, T., Yoshikawa, T. J. Med. Dent. Sci. (2003) [Pubmed]
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