copper transport disease


copper transport disease
синдром Менкеса
НЗЧ, обусловленное врожденным нарушением всасывания меди в кишечнике (гипокупремия организма), при С.М. снижена активность ряда ферментов (супероксиддисмутаза superoxide dismutase, тирозиназа tyrosinase и др.), отмечается тяжелая дегенерация нервной системы, истоньчение волос и образование на них характерных вздутий и т.д., обычно в возрасте 1-2 лет наступает летальный исход; наследуется по рецессивному сцепленному с полом типу, локус MNK расположен на участке q13.2-q13.3 Х-хромосомы.

Англо-русский толковый словарь генетических терминов. — М.: Изд-во ВНИРО. . 1995.

Смотреть что такое "copper transport disease" в других словарях:

  • copper transport disease — copper transport disease. См. синдром Менкеса. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

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  • Wilson disease protein — (also called ATP7B) is an ATPase that transports copper. PBB Summary section title = summary text = This gene is a member of the P type cation transport ATPase family and encodes a protein with several membrane spanning domains, an ATPase… …   Wikipedia

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  • nutritional disease — Introduction       any of the nutrient related diseases and conditions that cause illness in humans. They may include deficiencies or excesses in the diet, obesity and eating disorders, and chronic diseases such as cardiovascular disease,… …   Universalium


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