For Research Use Only. Not for use in diagnostic procedures.

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Small volumes of ANTXR2 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

53,493 Da

anthrax toxin receptor 2

anthrax toxin receptor 2

Anthrax toxin receptor 2

CMG2; CMG-2??[Similar Products]

ANTR2_HUMAN

This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

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.

Chromosomal Location of Human Ortholog: 4q21.21

Cellular Component: endosome membrane; plasma membrane

Molecular Function: protein binding

Disease: Hyaline Fibromatosis Syndrome

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