Disease-gene associations mined from literature

Literature associating MYOZ2 and congenital fiber-type disproportion

MYOZ2 [ENSP00000306997]

FATZ-related protein 2; 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:  MYOZ2,  MYOZ2p,  hMYOZ2,  Q9NPC6,  C4orf5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM