DISEASES

Disease-gene associations mined from literature

Literature associating RLTPR and leiomyomatosis

RLTPR [ENSP00000334958]

RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing; 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. Involved as well in cell migration and invadopodia formation during wound healing.

Synonyms:  RLTPR,  CARMIL2,  Q6F5E8,  R4GNC4,  CARMIL2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM