Protein-coding gene in the species Homo sapiens
Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.
Function.
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.
Clinical relevance.
Mutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.
References.
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Further reading.
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"This article incorporates text from the United States National Library of Medicine, which is in the public domain."