MYOF
myoferlin
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000138119
- UniProt:
- Q9NZM1
- OMIM:
- 604603
- Synonyms:
- FER1L3, KIAA1207
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
Subcellular localization
basal body, cilia, nucleus, transition zone, ciliary tip
References: PMID:41005307, doi:10.1101/2025.05.11.653368
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. Detected in primary cilia of human hypothalamic neurons by proximity proteomics (Macarelli et al., 2025, bioRxiv, doi 10.1101/2025.05.11.653368).