SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples.
- Autores: Albuquerque D, Alvarez M, Arez AP, Lopes D, Loua KM, Manco L, Millimono TS, Nogueira F, Rath SL, Relvas L, Ribeiro ML, Trovoada Mde J, Varandas L
- Ano de Publicação: 2011
- Journal: Annals of human biology
- Link: http://www.ncbi.nlm.nih.gov/pubmed/?term=SLC40A1+Q248H+allele+frequencies+and+associated+SLC40A1+haplotypes+in+three+West+African+population+samples.
Ferroportin is a transmembrane protein responsible for iron export from enterocytes and macrophages. Mutation c.744G → T (Q248H), located in exon 6 of the ferroportin gene SLC40A1, is found as a polymorphism in populations of African origin. This mutation has been extensively analysed in African-Americans, but poorly studied in native African populations.