Aliases for SYT14 Gene
External Ids for SYT14 Gene
Previous GeneCards Identifiers for SYT14 Gene
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. [provided by RefSeq, Dec 2011]
GeneCards Summary for SYT14 Gene
SYT14 (Synaptotagmin 14) is a Protein Coding gene. Diseases associated with SYT14 include Spinocerebellar Ataxia, Autosomal Recessive 11 and Spinocerebellar Ataxia 11. GO annotations related to this gene include calcium ion binding and protein heterodimerization activity. An important paralog of this gene is ENSG00000283619.
UniProtKB/Swiss-Prot for SYT14 Gene
May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.