VAMP1 gene

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]

From UniProt:

Involved in the targeting and/or fusion of transport vesicles to their target membrane.

From NCBI Gene:

  • Ataxia, spastic, 1, autosomal dominant

From UniProt:

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]

Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31

Molecular Location: base pairs 6,462,237 to 6,470,899 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31
  • SPAX1
  • SYB1
  • VAMP-1