DISEASES

Disease-gene associations mined from literature

Literature associating TMOD1 and megacystis-microcolon-intestinal hypoperistalsis syndrome

TMOD1 [ENSP00000259365]

Erythrocyte tropomodulin; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. May play an important role in regulating the organization of actin filaments by preferentially binding to a specific tropomyosin isoform at its N-terminus; Tropomodulins

Synonyms:  TMOD1,  TMOD1p,  hTMOD1,  P28289,  Q5T7W3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM