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Product Name SAMD9 Chinese Name SAMD9蛋白抗体 Alias SAM domain-containing protein 9; SAMD9; SAMD9_HUMAN; sterile alpha motif domain containing 9; Sterile alpha motif domain-containing protein 9; C7orf5. Research Area Tumour Cell biology immunology Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Cow, Horse, Sheep, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:50-200 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 184kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human SAMD9: 1501-1589/1589 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail Defects in SAMD9 are the cause of normophosphatemic familial tumoral calcinosis (NFTC). NFTC is an uncommon life-threatening disorder characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.
Function:
May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2.
Subunit:
Interacts with RGL2.
Subcellular Location:
Cytoplasm
Tissue Specificity:
Widely expressed. Very low levels in skeletal muscle. Not detected in fetal brain. Down-regulated in aggressive fibromatosis, as well as in breast and colon cancers.
DISEASE:
Defects in SAMD9 are the cause of tumoral calcinosis, normophosphatemic, familial (NFTC) [MIM:610455]. An uncommon disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions, massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation.
Similarity:
Contains 1 SAM (sterile alpha motif) domain.
SWISS:
Q5K651
Gene ID:
54809
Database links:Entrez Gene: 54809 Human
Omim: 610456 Human
SwissProt: Q5K651 Human
Unigene: 65641 Human
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