The ABCC11 gene encodes for a little known member of the ABC (ATP binding cassette) superfamily of membrane transporters. The protein is called MRP8 or multi-drug resistance protein 8. Not much is yet known about its function. It became 'famous' largely because of its association with the dry-wet ear wax phenotype. Additionally, it has been shown to transport cyclic nucleotides e.g. cAMP and cGMP, and consequently has been implicated in resistance to a number of nucleotidic anticancer drugs used for breast cancers.
Other interesting associations other than ear wax....is the association with the production of colustrum by nursing mothers (early milk).
The main genetic polymorphism associated with ABCC11 is the 538G-A transition in exon 4 giving rise to a substitution of glycine to arginine. The frequency of this polymorphism is unknown among our local ethnic groups is Singapore.
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