MYO9A gene

myosin IXA

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Dec 2011]

From UniProt:

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).

From NCBI Gene:

  • MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC

From UniProt:

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. [MIM:618198]

Cytogenetic Location: 15q23, which is the long (q) arm of chromosome 15 at position 23

Molecular Location: base pairs 71,822,291 to 72,118,577 on chromosome 15 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 15q23, which is the long (q) arm of chromosome 15 at position 23