ABCC11

ABCC11 is a gene that is part of the ATP-binding cassette transporter sub-family C (CFTR/MRP). This gene is located on the long arm of chromosome 16 (16q12.1) and is known to play a crucial role in the transport of various molecules across the extra- and intra-cellular membranes.

Function

The protein encoded by the ABCC11 gene is an ATP-dependent efflux pump, which is involved in multi-drug resistance. It is responsible for the transport of various substances, including lipophilic anions, glutathione, glucuronide, and sulfate conjugates of steroid hormones and bile salts.

Clinical significance

The ABCC11 gene is associated with the production of earwax. A specific single nucleotide polymorphism (SNP) in this gene (rs17822931) is responsible for determining whether a person has wet or dry earwax. The presence of a G allele at this SNP results in wet earwax and greater body odor due to the production of more apocrine sweat, while the presence of an A allele results in dry earwax and less body odor.

In addition, variations in the ABCC11 gene have been associated with the risk of developing breast cancer. Studies have shown that individuals with the wet earwax genotype (GG or GA) have a higher risk of breast cancer compared to those with the dry earwax genotype (AA).

See also

• ATP-binding cassette transporter
• Single nucleotide polymorphism
• Breast cancer

References

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