NP_598499.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
53,184 Da
NCBI Official Full Name
anthrax toxin receptor 2
NCBI Official Synonym Full Names
anthrax toxin receptor 2
NCBI Official Synonym Symbols
CMG2; CMG-2; cI-35; AW561899; 2310046B19Rik [Similar Products]
NCBI Protein Information
anthrax toxin receptor 2
UniProt Protein Name
Anthrax toxin receptor 2
UniProt Entry Name
ANTR2_MOUSE
UniProt Comments for ANTXR2
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; membrane
Molecular Function: metal ion binding; receptor activity
Biological Process: reproductive process
Research Articles on ANTXR2
Precautions
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Products associated with ANTXR2 recombinant protein
Diseases associated with ANTXR2 recombinant protein
Organs/Tissues associated with ANTXR2 recombinant protein
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