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

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Gene Review:

CFM1 - cystic fibrosis modifier 1

Homo sapiens

Larriba, S. et al., Zielenski, J. et al.

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Disease relevance of CFM1

Genetic heterogeneity in the 19q13.2-13.4 region, syntenic to the Cystic Fibrosis Modulator Locus 1 (CFM1) in mouse, seemed to be associated to the intestinal phenotypic variation of cystic fibrosis (CF) [1].
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 [2].

High impact information on CFM1

Evaluation of the possible implication of ATB(0) in the intestinal phenotype of CF was performed on the basis of the functional characteristics of the encoded protein, its apparent relevance to meconium ileus (MI) and position in relation to the hCFM1 syntenic region [1].

References

ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis. Larriba, S., Sumoy, L., Ramos, M.D., Giménez, J., Estivill, X., Casals, T., Nunes, V. Eur. J. Hum. Genet. (2001) [Pubmed]
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Zielenski, J., Corey, M., Rozmahel, R., Markiewicz, D., Aznarez, I., Casals, T., Larriba, S., Mercier, B., Cutting, G.R., Krebsova, A., Macek, M., Langfelder-Schwind, E., Marshall, B.C., DeCelie-Germana, J., Claustres, M., Palacio, A., Bal, J., Nowakowska, A., Ferec, C., Estivill, X., Durie, P., Tsui, L.C. Nat. Genet. (1999) [Pubmed]

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