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Rabbit Anti-SAMD9/FITC Conjugated antibody
background:
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.
Database links:
Entrez Gene: 5969 Human
Omim: 610456 Human
SwissProt: Q5K651 Human
Unigene: 65641 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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