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Anthrax toxin receptor

Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells (By similarity).

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Anthrax toxin receptor 1

ANTXR1: Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells. Defects in ANTXR1 are associated with susceptibility to hemangioma capillary infantile (HCI). HCI are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Belongs to the ATR family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Actin-binding; Membrane protein, integral; Receptor, misc.

Cellular Component: cell surface; filopodium membrane

Molecular Function: actin filament binding; collagen binding; transmembrane receptor activity

Biological Process: actin cytoskeleton reorganization; blood vessel development; reproductive process

Anthrax toxin receptor 2

ANTXR2: Necessary for cellular interactions with laminin and the extracellular matrix. Defects in ANTXR2 are the cause of infantile systemic hyalinosis (ISH). 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. Defects in ANTXR2 are the cause of juvenile hyaline fibromatosis (JHF). 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. Belongs to the ATR family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Receptor, misc.

Cellular Component: cell surface; external side of plasma membrane; integral to membrane

Biological Process: reproductive process

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