功能： disease:Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]. MMACHC is a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood.,function:May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).,pathway:Cofactor biosynthesis; adenosylcobalamin biosynthesis.,similarity:Belongs to the MMACHC family.,tissue specificity:Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytosol .
组织表达： Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes.
功能： disease:Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]. MMACHC is a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood.,function:May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).,pathway:Cofactor biosynthesis; adenosylcobalamin biosynthesis.,similarity:Belongs to the MMACHC family.,tissue specificity:Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytosol .
组织表达： Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes.
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