MYO9A
Function
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho by stimulating it's GTPase activity in neurons. Required for the regulation of neurite branching and motor neuron axon guidance (By similarity).
Involvement in disease
Myasthenic syndrome, congenital, 24, presynaptic
CMS24
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS24 inheritance is autosomal recessive.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by ALPK1 following monosodium urate monohydrate (MSU)-induced inflammation.
Sequence Similarities
Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Tissue Specificity
Found to be expressed in testis and placenta and at lower levels in all the examined tissues with the exception of liver (PubMed:10409426). Isoform 5: Found in leukocytes but not in brain, retina or testis (PubMed:10409426).
Cellular localization
- Membrane
- Single-pass membrane protein
- Cytoplasm
- Synapse
- Cell projection
- Growth cone
- Localized in the cytoplasm of cell bodies, dendrites and axons with occasional hints of an enrichment near the plasma membrane. Localized at the neuromuscular junction (By similarity).
Alternative names
MYR7, MYO9A, Unconventional myosin-IXa, Unconventional myosin-9a