Reactivities: | Human |
Presku: | AAP67832 |
Size: | 100ug |
Weight: | 62kDa |
Gene: | 255928 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | SCAR11; sytXIV |