Pharmacogenomics of human ABC transporter ABCC11 (MRP8): potential risk of breast cancer and chemotherapy failure.

ABSTRACT: Some genetic polymorphisms of human ABC transporter genes are reportedly related to the risk of certain diseases and patients' responses to medication. Human ABCC11 functions as an ATP-dependent efflux pump for amphipathic anions. One non-synonymous SNP 538G>A (Gly180Arg) has been found to greatly affect the function and stability of de novo synthesized ABCC11 (Arg180) variant protein. The SNP variant lacking N-linked glycosylation is recognized as a misfolded protein in the endoplasmic reticulum (ER) and readily undergoes proteasomal degradation. This ER-associated degradation of ABCC11 protein underlies the molecular mechanism of affecting the function of apocrine glands. On the other hand, the wild type (Gly180) of ABCC11 is associated with wet-type earwax, axillary osmidrosis, colostru

SUBMITTER: Toyoda Y 

PROVIDER: S-EPMC3319924 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature