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 Autosomal Recessive Cerebellar Ataxia-Psychomotor Retardation Syndrome. GO annotations related to this gene include calcium ion binding and protein heterodimerization activity. An important paralog of this gene is SYT16.
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.