DISEASES

Disease-gene associations mined from literature

Literature associating CARMIL2 and leiomyomatosis

CARMIL2 [ENSP00000334958]

Capping protein, Arp2/3 and myosin-I linker protein 2; Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization . Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations (PubMed:19846667, PubMed:26578515, PubMed:26466680). Involved as well in cell migration and invadopodia formation during wound healing (PubMed:19846667, PubMed:26578515, PubMed:26466680). Required for CD28-mediated stimulation of NF-kappa-B signaling, involved in naive T cells activation, maturation into T memory cells, and differentiation into T helper and T regulatory cells . ECO:0000269|PubMed:26578515, ECO:0000269|PubMed:27647348,; Belongs to the CARMIL family.

Synonyms:  CARMIL2,  CARMIL2p,  hCARMIL2,  Q6F5E8,  R4GMZ7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM