功能： disease:Defects in ANTXR2 are the cause of infantile systemic hyalinosis (ISH) [MIM:236490]. This autosomal recessive syndrome is similar to JHF, but has an earlier onset and a more severe course. Symptoms appear at birth or within the first months of life, with painful, swollen joint contractures, osteopenia, osteoporosis and livid red hyperpigmentation over bony prominences. Patients develop multiple subcutaneous skin tumors and gingival hypertrophy. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to death within the first 2 years of life. Surviving children may suffer from severely reduced mobility due to joint contractures.,disease:Defects in ANTXR2 are the cause of juvenile hyaline fibromatosis (JHF) [MIM:228600]. JHF is an autosomal recessive syndrome that is similar to ISH but takes a milder course. It is characterized by hyaline deposition in the dermis, multiple subcutaneous skin tumors and gingival hypertrophy, followed by progressive joint contractions, osteopenia and osteoporosis that may lead to a severe limitation of mobility.,domain:Binding to PA seems to be effected through the VWA domain.,function:Necessary for cellular interactions with laminin and the extracellular matrix.,miscellaneous:Upon binding of the protective antigen (PA) of Bacillus anthracis the complex moves to glycosphingolipid-rich lipid rafts, where it is internalized via a clathrin-dependent pathway.,similarity:Belongs to the ATR family.,similarity:Contains 1 VWFA domain.,subcellular location:Expressed at the cell surface.,subcellular location:Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane.,subunit:Binds laminin, and possibly also collagen type IV. Binds to the protective antigen (PA) of Bacillus anthracis in a divalent cation-dependent manner, with the following preference: calcium > manganese > magnesium > zinc. Binding of PA leads to heptamerization of the receptor-PA complex.,tissue specificity:Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform 1]: Cell membrane ; Single-pass type I membrane protein . Expressed at the cell surface. .; [Isoform 2]: Endoplasmic reticulum membrane ; Single-pass type I membrane protein . Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane. .; [Isoform 3]: Secreted .
组织表达： Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen.
功能： disease:Defects in ANTXR2 are the cause of infantile systemic hyalinosis (ISH) [MIM:236490]. This autosomal recessive syndrome is similar to JHF, but has an earlier onset and a more severe course. Symptoms appear at birth or within the first months of life, with painful, swollen joint contractures, osteopenia, osteoporosis and livid red hyperpigmentation over bony prominences. Patients develop multiple subcutaneous skin tumors and gingival hypertrophy. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to death within the first 2 years of life. Surviving children may suffer from severely reduced mobility due to joint contractures.,disease:Defects in ANTXR2 are the cause of juvenile hyaline fibromatosis (JHF) [MIM:228600]. JHF is an autosomal recessive syndrome that is similar to ISH but takes a milder course. It is characterized by hyaline deposition in the dermis, multiple subcutaneous skin tumors and gingival hypertrophy, followed by progressive joint contractions, osteopenia and osteoporosis that may lead to a severe limitation of mobility.,domain:Binding to PA seems to be effected through the VWA domain.,function:Necessary for cellular interactions with laminin and the extracellular matrix.,miscellaneous:Upon binding of the protective antigen (PA) of Bacillus anthracis the complex moves to glycosphingolipid-rich lipid rafts, where it is internalized via a clathrin-dependent pathway.,similarity:Belongs to the ATR family.,similarity:Contains 1 VWFA domain.,subcellular location:Expressed at the cell surface.,subcellular location:Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane.,subunit:Binds laminin, and possibly also collagen type IV. Binds to the protective antigen (PA) of Bacillus anthracis in a divalent cation-dependent manner, with the following preference: calcium > manganese > magnesium > zinc. Binding of PA leads to heptamerization of the receptor-PA complex.,tissue specificity:Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform 1]: Cell membrane ; Single-pass type I membrane protein . Expressed at the cell surface. .; [Isoform 2]: Endoplasmic reticulum membrane ; Single-pass type I membrane protein . Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane. .; [Isoform 3]: Secreted .
组织表达： Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen.
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