MYO9A

This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome.

Full Name

myosin IXA

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).

Biological Process

Cell junction assembly Source: UniProtKB
Establishment of epithelial cell apical/basal polarity Source: UniProtKB
Intracellular signal transduction Source: InterPro
Positive regulation of GTPase activity Source: InterPro
Regulation of neuron projection arborization Source: UniProtKB
Regulation of small GTPase mediated signal transduction Source: Reactome
Visual perception Source: ProtInc

Cellular Location

Cytoplasm
Other locations
Membrane
synapse
growth cone
Note: 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).

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.

Topology

Helical: 175-195

PTM

Phosphorylated by ALPK1 following monosodium urate monohydrate (MSU)-induced inflammation.