Literature associating SAMD9 and IMAGe syndrome
Sterile alpha motif domain-containing protein 9; 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. May be involved in endosome fusion; Sterile alpha motif domain containing
Synonyms: SAMD9, SAMD9p, hSAMD9, C9JKF1, Q5K651 ...