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SYT14 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 Name: | Synaptotagmin XIV |
Synonyms: | SYT14, SCAR11, Synaptotagmin XIV, SytXIV, Synaptotagmin-14 |
Target Sequences: | Q8NB59 Q8NB59 |
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