DISEASES

Disease-gene associations mined from literature

Literature associating MYOZ3 and Noonan syndrome 10

MYOZ3 [ENSP00000297130]

FATZ-related protein 3; Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.

Synonyms:  MYOZ3,  MYOZ3p,  hMYOZ3,  E5RII7,  H0YC50 ...

Linkouts:  STRING  Pharos  UniProt  OMIM