功能： catalytic activity:Adenosine + H(2)O = inosine + NH(3).,disease:Defects in ADA are the cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ADA-SCID is an autosomal recessive form accounting for about 50% of non-X-linked SCIDs. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency.,disease:In hereditary hemolytic anemia, the level of this enzyme in erythrocytes increases 50-70 times.,online information:ADA mutation db,online information:Adenosine deaminase entry,polymorphism:There is a common allele, ADA*2, also known as the ADA 2 allozyme. It is associated with the reduced metabolism of adenosine to inosine. It specifically enhances deep sleep and slow-wave activity (SWA) during sleep.,similarity:Belongs to the adenosine and AMP deaminases family.,tissue specificity:Found in all tissues, occurs in large amounts in T-lymphocytes and, at the time of weaning, in gastrointestinal tissues.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Peripheral membrane protein; Extracellular side. Cell junction . Cytoplasmic vesicle lumen . Cytoplasm . Lysosome . Colocalized with DPP4 at the cell surface. .
组织表达： Found in all tissues, occurs in large amounts in T-lymphocytes (PubMed:20959412). Expressed at the time of weaning in gastrointestinal tissues.
功能： catalytic activity:Adenosine + H(2)O = inosine + NH(3).,disease:Defects in ADA are the cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ADA-SCID is an autosomal recessive form accounting for about 50% of non-X-linked SCIDs. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency.,disease:In hereditary hemolytic anemia, the level of this enzyme in erythrocytes increases 50-70 times.,online information:ADA mutation db,online information:Adenosine deaminase entry,polymorphism:There is a common allele, ADA*2, also known as the ADA 2 allozyme. It is associated with the reduced metabolism of adenosine to inosine. It specifically enhances deep sleep and slow-wave activity (SWA) during sleep.,similarity:Belongs to the adenosine and AMP deaminases family.,tissue specificity:Found in all tissues, occurs in large amounts in T-lymphocytes and, at the time of weaning, in gastrointestinal tissues.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Peripheral membrane protein; Extracellular side. Cell junction . Cytoplasmic vesicle lumen . Cytoplasm . Lysosome . Colocalized with DPP4 at the cell surface. .
组织表达： Found in all tissues, occurs in large amounts in T-lymphocytes (PubMed:20959412). Expressed at the time of weaning in gastrointestinal tissues.
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