Assignment of the human glycogen debrancher gene to chromosome 1p21.
作者： Teresa L. Yang-Feng , Keqin Zheng , Jingwei Yu , Bing-Zhi Yang , Yuan-Tsong Chen
DOI: 10.1016/0888-7543(92)90003-B
关键词: Glycogen storage disease type III 、 Gene mapping 、 Complementary DNA 、 Enzyme assay 、 Glycogen debranching enzyme 、 Gene 、 Enzyme 、 Glycogen 、 Biochemistry 、 Molecular biology 、 Biology
摘要: Abstract Glycogen debranching enzyme is a monomeric protein containing two independent catalytic activities of glycantransferase and glucosidase that are both required for glycogen degradation. Its deficiency causes type III storage disease. A majority the patients with this disease have deficient activity in liver muscle (type IIIa) but ∼15% them lack only IIIb); however, monomer appears to be identical all tissues. The cDNA coding complete human has recently been isolated. Using clones, debrancher gene was localized chromosome 1 by somatic cell hybrid analysis. Regional assignment band 1p21 determined situ hybridization. Mapping single site consistent our hypotheses encodes protein.
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