MAK

Cilia effects upon perturbation of MAK

Cilia number / % ciliated:

Unknown

Loss-of-function effect:

Longer cilia

Overexpression effect:

Unknown

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

retinitis pigmentosa; retinitis pigmentosa 62

Ciliopathy associations

• Retinal Dystrophy/Degeneration

References: PMID:21825139

Subcellular localization

basal body, centrosome, cilia, nucleus

References: PMID:41005307, PMID:22110072, PMID:21148103, PMID:30955935

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Involved in the regulation of photoreceptor connecting cilium length. Mutations cause autosomal dominant Retinitis Pigmentosa (22110072). Essential for the regulation of ciliary length, preventing excessive elongation of the cilia and is required for the long-term survival of photoreceptors (21148103). Forms a complex with DYF-5 to regulate cilia morphology ikely via modulation of microtubule stability (30955935).