Biopolym. Cell. 2010; 26(1):13-22.
Огляди
Мутації в гені натрій-фосфатного котранспортеру ІІb типу
людини SLC34A2
1Літуєв Д. С., 1Кіямова Р. Г.
- Інститут молекулярної біології і генетики НАН України
Вул. Академіка Заболотного, 150, Київ, Україна, 03680
Abstract
Натрій-фосфатний котранспортер IIb типу (NaPi2b) забезпечує поглинання фосфатів у клітинах деяких епітеліальних тканин, в остеобластах та одонтобластах. В окремих типах епітеліальних пухлин показано зміну експресії NaPi2, а також нещодавно виявлено порушення активності NaPi2b, зумовлені мутаціями в гені транспортера (SLC34A2), у пацієнтів з альвеолярним мікролітіазом легень – захворюванні з аутосомно-рецесивним типом успадкування, при якому накопичуються нерозчинні кальцій-фосфатні солі в легенях. У цій роботі зібрано та узагальнено інформацію щодо всіх мутацій, знайдених у кодуючій ділянці гена SLC34A2 і його транскриптів, та обговорено дані стосовно їхнього впливу на функцію NaPi2b.
Keywords: ген SLC34A2, транспорт неорганічного фосфату, альвеолярний мікролітіаз легень, мутації, рак яєчника
Повний текст: (PDF, англійською)
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