MYOF

myoferlin

Ensembl:
ENSG00000138119
UniProt:
Q9NZM1
OMIM:
604603
Synonyms:
FER1L3, KIAA1207

Cilia effects upon perturbation of MYOF

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.59) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
increased circulating calcium level, increased circulating total protein level, increased circulating phosphate level
Mouse ciliopathy phenotype:
increased circulating creatinine level

Subcellular localization

basal body, cilia, nucleus, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Cardiac & muscle development
  • Muscle contraction & physiology
  • Transition zone

Function

Myoferlin (MYOF) and Oxysterol Binding Protein Like 10 (OSBPL10) were detected at the basal body and that NRP1 was localised along the ciliary shaft., MYOF has localized in ciliary tip, basal body, transition zone.