MYO7A

Cilia effects upon perturbation of MYO7A

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-13.10) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

stereotypic behavior, decreased body weight, abnormal bone mineralization, absent pin reflex, increased lean body mass, abnormal glucose homeostasis, trunk curl, abnormal locomotor activation, increased blood urea nitrogen level, increased circulating sodium level, abnormal behavior, impaired righting response

Mouse ciliopathy phenotype:

persistence of hyaloid vascular system

Human ciliopathy phenotype:

autosomal recessive nonsyndromic hearing loss 2; autosomal dominant nonsyndromic hearing loss 11; hearing loss, autosomal recessive; autosomal dominant nonsyndromic hearing loss; nonsyndromic genetic hearing loss; Joubert syndrome and related disorders

Ciliopathy associations

• Usher Syndrome

Subcellular localization

basal body, cytosol

Functional category

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

Function

Responsible for Usher syndrome type 1B (PMID:7870171). requiredfor normal hair cell development, as well as for thefunction of the mature hair cells (9678669). It might be required for the transport of newly synthesized outer segment proteins to the site of disk membrane assembly (9227854). Myosin VIIa participates in the transport of opsin through the connecting cilium (10414956).