Molecular weight (DA)
53kD
Immunogen
Synthesized peptide derived from part region of human protein
Specificity
ANTR2 Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
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 depos
Protein name
Anthrax toxin receptor 2 (Capillary morphogenesis gene 2 protein) (CMG-2)
Fields
>>NOD-like receptor signaling pathway
Human protein sequence Database
P58335
Mouse protein sequence database
Q6DFX2
Rat protein sequence database
Cellular localization
[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 .
Tissue expression
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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