Gene Symbol | SYT14 |
Entrez Gene ID | 255928 |
Full Name | synaptotagmin 14 |
Synonyms | SCAR11,sytXIV |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Spinocerebellar ataxia, autosomal recessive 11, 614229 (3) |