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Gene Symbol | CARMIL2 | ||||||||||
Synonyms | CARMIL2b | IMD58 | LRRC16C | RLTPR | ||||||||||
Gene Description | CARMIL2, capping protein regulator and myosin 1 linker 2, is a member of the CARMIL family of proteins, which regulates capping protein on actin filaments and plays a role in cell migration and invasion (PMID: 26466680, PMID: 26578515), and is required for CD28 activation of the NF-kappaB pathway and functions in T-cell development (PMID: 27647348, PMID: 28112205). Mutations in CARMIL2 have been identified in patients with smooth muscle tumors (PMID: 28112205, PMID: 32625199) and T-cell leukemia/lymphoma (PMID: 33098696). | ||||||||||
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