vesicle associated membrane protein 1
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]
Involved in the targeting and/or fusion of transport vesicles to their target membrane.
From NCBI Gene:
- MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC
- Ataxia, spastic, 1, autosomal dominant
Myasthenic syndrome, congenital, 25, presynaptic (CMS25): 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. CMS25 is an autosomal recessive form characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. [MIM:618323]
Spastic ataxia 1, autosomal dominant (SPAX1): An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. [MIM:108600]