DISEASES

Disease-gene associations mined from literature

Literature associating MYOZ1 and myofibrillar myopathy 3

MYOZ1 [ENSP00000352272]

Filamin-, actinin- and telethonin-binding protein; Myozenins may serve as intracellular binding proteins involved in linking Z-disk 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:  MYOZ1,  MYOZ1p,  hMYOZ1,  Q9NP98,  MYOZ ...

Linkouts:  STRING  Pharos  UniProt  OMIM