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

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Gene Review: 

MAB21L1  -  mab-21-like 1 (C. elegans)

Homo sapiens

Synonyms: CAGR1, Nbla00126, Protein mab-21-like 1
 
 
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Disease relevance of MAB21L1

 

High impact information on MAB21L1

  • Here we report the cDNA cloning of CAGR1, originally detected in a retinal cDNA library [2].
  • Though insufficient data are available to link the long repeat to this clinical phenotype, an expansion mutation of the CAGR1 repeat can be considered a candidate for the etiology of disorders with anticipation or developmental abnormalities, and particularly any such disorders linked to chromosome 13 [2].
  • Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression [3].
  • This raises the possibility that longer expansions in the MAB21L1 repeat may also be associated with a clinical phenotype [3].
  • MAB21L1, mapped to 13q13, contains a highly polymorphic 5' untranslated CAG repeat that normally ranges from six to 31 triplets in length [3].
 

Biological context of MAB21L1

 

Other interactions of MAB21L1

  • Linkage analysis using additional polymorphic markers narrowed the region of the GER gene to a 9 cM interval between markers D13S263 and CAGR1, formally excluding HTR2A as a candidate gene [5].

References

  1. Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects. Merello, E., De Marco, P., Moroni, A., Raso, A., Calevo, M.G., Consalez, G.G., Cama, A., Capra, V. Birth defects research. Part A, Clinical and molecular teratology. (2004) [Pubmed]
  2. cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. Margolis, R.L., Stine, O.C., McInnis, M.G., Ranen, N.G., Rubinsztein, D.C., Leggo, J., Brando, L.V., Kidwai, A.S., Loev, S.J., Breschel, T.S., Callahan, C., Simpson, S.G., DePaulo, J.R., McMahon, F.J., Jain, S., Paykel, E.S., Walsh, C., DeLisi, L.E., Crow, T.J., Torrey, E.F., Ashworth, R.G., Macke, J.P., Nathans, J., Ross, C.A. Hum. Mol. Genet. (1996) [Pubmed]
  3. Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression. Margolis, R.L., Stine, O.C., Ward, C.M., Franz, M.L., Rosenblatt, A., Callahan, C., Sherr, M., Ross, C.A., Potter, N.T. J. Med. Genet. (1999) [Pubmed]
  4. Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13. Potter, N.T. J. Med. Genet. (1997) [Pubmed]
  5. Refined localization of a gene for pediatric gastroesophageal reflux makes HTR2A an unlikely candidate gene. Hu, F.Z., Post, J.C., Johnson, S., Ehrlich, G.D., Preston, R.A. Hum. Genet. (2000) [Pubmed]
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