ABCA12 - ATP Binding Cassette Transporter A12 |Elisa - Clia - Antibody - Protein

Background

ABCA12 is a member of the ATP-binding cassette (ABC) transporter family, specifically part of the subfamily A. It is primarily involved in the transport of lipids and plays a crucial role in the formation and maintenance of the skin barrier.

Structural Features

• Transmembrane Domains (TMDs): ABCA12 has multiple membrane-spanning regions that facilitate the transport of lipids across cellular membranes.
• Nucleotide-Binding Domains (NBDs): These domains bind and hydrolyze ATP to provide the energy necessary for the transport process.
• Extracellular Domains: Important for substrate recognition and binding.

Physiological Functions

ABCA12 is essential for:

• Lipid Transport: It transports glucosylceramides, crucial for the formation of lamellar granules in keratinocytes, which are involved in skin barrier function.
• Skin Barrier Formation: Proper functioning of ABCA12 ensures the development and maintenance of a functional epidermal barrier, protecting against environmental damage and preventing water loss.
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Clinical Implications

Mutations in ABCA12 are associated with severe skin disorders:

• Harlequin Ichthyosis: A rare, severe genetic disorder characterized by thick, scaly skin. It is caused by mutations that lead to a loss of function of ABCA12, resulting in impaired lipid transport and defective skin barrier formation.
• Lamellar Ichthyosis: A less severe form of ichthyosis also linked to ABCA12 mutations, leading to dry, scaly skin.
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Therapeutic Potential

• Gene Therapy: Approaches to correct ABCA12 mutations are being explored as potential treatments for related skin disorders.
• Topical Treatments: Development of lipid-based therapies to compensate for the defective lipid transport in ABCA12-related conditions.
• Genetic Screening: Early detection of ABCA12 mutations can help in the management and treatment of ichthyosis.
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