功能： catalytic activity:H(2)CO(3) = CO(2) + H(2)O.,cofactor:Zinc.,disease:Defects in CA2 are the cause of autosomal recessive osteopetrosis type 3 (OPTB3) [MIM:259730]; also known as osteopetrosis with renal tubular acidosis, carbonic anhydrase II deficiency syndrome, Guibaud-Vainsel syndrome or marble brain disease. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation.,function:Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide.,similarity:Belongs to the alpha-carbonic anhydrase family.,subunit:Interacts with SLC4A4. Interaction with SLC4A7 regulates SLC4A7 transporter activity.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Cell membrane . Colocalized with SLC26A6 at the surface of the cell membrane in order to form a bicarbonate transport metabolon. Displaced from the cytosolic surface of the cell membrane by PKC in phorbol myristate acetate (PMA)-induced cells. .
功能： catalytic activity:H(2)CO(3) = CO(2) + H(2)O.,cofactor:Zinc.,disease:Defects in CA2 are the cause of autosomal recessive osteopetrosis type 3 (OPTB3) [MIM:259730]; also known as osteopetrosis with renal tubular acidosis, carbonic anhydrase II deficiency syndrome, Guibaud-Vainsel syndrome or marble brain disease. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation.,function:Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide.,similarity:Belongs to the alpha-carbonic anhydrase family.,subunit:Interacts with SLC4A4. Interaction with SLC4A7 regulates SLC4A7 transporter activity.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Cell membrane . Colocalized with SLC26A6 at the surface of the cell membrane in order to form a bicarbonate transport metabolon. Displaced from the cytosolic surface of the cell membrane by PKC in phorbol myristate acetate (PMA)-induced cells. .
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