ABCC11

Human gene encoding the ATP-binding cassette sub-family C member 11 protein

ABCC11 is a gene in humans that encodes the ATP-binding cassette sub-family C member 11 protein. This protein is part of the ATP-binding cassette (ABC) transporter family, which is involved in the transport of various molecules across extra- and intra-cellular membranes.

Function

The ABCC11 protein is primarily known for its role in the transport of organic anions and drugs. It is expressed in various tissues, including the apocrine glands, and is involved in the secretion of earwax and axillary odor. The gene is also associated with the transport of bile acids and conjugated steroids.

Genetic Variants

A single nucleotide polymorphism (SNP) in the ABCC11 gene, 538G>A, is responsible for determining the type of earwax a person has. The G allele is associated with wet earwax, while the A allele is associated with dry earwax. This polymorphism also affects axillary odor and is linked to breast cancer risk.

Distribution

The distribution of the ABCC11 alleles varies significantly across different populations. The A allele, which results in dry earwax, is prevalent in East Asian populations, while the G allele is more common in African and European populations.

Clinical Significance

The ABCC11 gene has been studied for its potential role in breast cancer susceptibility. The dry earwax allele (A) has been associated with a reduced risk of breast cancer in some studies. Additionally, the gene's role in drug transport suggests it may influence the pharmacokinetics of certain medications.

Related pages

• ATP-binding cassette transporter
• Earwax
• Genetic polymorphism
• Breast cancer

Gallery

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  Genetic map of ABCC11
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  World map showing distribution of the ABCC11 A allele