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ABCA12 - Revision history
2026-05-13T06:57:48Z
Revision history for this page on the wiki
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Prab at 17:09, 18 March 2025
2025-03-18T17:09:15Z
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 17:09, 18 March 2025</td>
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Prab
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Prab: CSV import
2025-03-17T02:53:10Z
<p>CSV import</p>
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Prab
https://wikimd.org/index.php?title=ABCA12&diff=6202344&oldid=prev
Prab: CSV import
2025-02-10T04:52:32Z
<p>CSV import</p>
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 04:52, 10 February 2025</td>
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Prab
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Prab: CSV import
2024-03-10T22:12:18Z
<p>CSV import</p>
<p><b>New page</b></p><div>'''ABCA12''' is a gene that in humans is responsible for the production of the ATP-binding cassette sub-family A member 12 (ABCA12) protein. This protein is a crucial component in the development and maintenance of the skin, specifically the [[epidermis]].<br />
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== Function ==<br />
The ABCA12 protein is a member of the [[ATP-binding cassette (ABC) transporter]] superfamily. These proteins transport various molecules across the intra and extra-cellular membranes. ABCA12 is a transmembrane protein that plays a critical role in the transport of lipids and the formation of the [[lipid barrier]] in the skin. This barrier is essential for protecting the body from dehydration and infection.<br />
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== Clinical significance ==<br />
Mutations in the ABCA12 gene are associated with [[Harlequin-type ichthyosis]] and [[Lamellar ichthyosis]], two severe skin disorders. These conditions are characterized by a thickening of the skin and an abnormal scaling, respectively. <br />
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=== Harlequin-type ichthyosis ===<br />
Harlequin-type ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. Mutations in the ABCA12 gene prevent the normal transport of lipids, leading to the formation of an abnormal skin barrier.<br />
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=== Lamellar ichthyosis ===<br />
Lamellar ichthyosis is a rare genetic condition that causes the skin to scale and shed. Mutations in the ABCA12 gene disrupt the normal development of the epidermis, leading to the symptoms of this disorder.<br />
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== See also ==<br />
* [[ATP-binding cassette transporter]]<br />
* [[Harlequin-type ichthyosis]]<br />
* [[Lamellar ichthyosis]]<br />
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== References ==<br />
<references /><br />
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[[Category:Genes]]<br />
[[Category:Human proteins]]<br />
[[Category:Dermatology]]<br />
[[Category:Genetic disorders]]<br />
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