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.
Involvement in disease
Defects in SAMD9 are the cause of normophosphatemic familial tumoral calcinosis (NFTC) [MIM:610455]. NFTC is an uncommon life-threatening disorder characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.
Immunohistochemical analysis of formalin-fixed paraffin-embedded Human stomach tissue, labeling SAMD9 using ab175260 at a 1/50 dilution, followed by peroxidase conjugation of the secondary antibody and DAB staining.