Gene: SYT14
Alternate names for this Gene: SCAR11|sytXIV
Gene Summary: This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4.
Gene is located in Chromosome: 1
Location in Chromosome : 1q32.2
Description of this Gene: synaptotagmin 14
Type of Gene: protein-coding