ABCA12

Az ATP-kötő kazetta, A alcsalád, 12. tag, més néven ATP-kötő kazettatranszporter 12 fehérje, melyet emberben az ABCA12 gén kódol.

Az ABCA12 az ATP-kötő kazettatranszporterek családjába tartozik, melyek sejtmembránok közti molekulatranszportot végeznek. Az ABCA12 egyes bőrsejtekben és néhány más szövetben, például a herékben, a méhlepényben, a tüdőben és a gyomorban, illetve a magzati agyban és májban aktív. E fehérje lényeges a bőr megfelelő fejlődéséhez. Epidermozidot transzportál, mely glükozilceramid, az epidermisz stratum corneumának keratinocitáiból.

Az ABCA12 gén a humán 2-es kromoszóma q-karjának 34–35-ös sávja közt található a 215 621 772. és 215 828 656. bázispárok közt.

Lokalizáció

Az ABCA12 a lamelláris szemcsékben lokalizálódik.

Klinikai jelentőség

Jegyzetek

További információk

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• GeneCard
• ABCA12+protein,+human a U.S. National Library of Medicine Medical Subject Headings (MeSH) honlapján