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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.
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Whole-exome and targeted sequencing have defined the genetic basis of dizziness including new genes causing ataxia: GBA2 (zeige GBA2 Antikörper), TGM6 (zeige TGM5 Antikörper), ANO10 (zeige ANO10 Antikörper) and SYT14
New DNA sequencing technologies are enabling us to investigate the whole or large targeted proportions of the genome in a rapid, affordable, and comprehensive way. Exome and targeted sequencing SYT14 genes causing ataxia.
A homozygous missense mutation in SYT14, encoding synaptotagmin XIV was identified in a Japanese family in which two siblings have slow progression of a type of autosomal-recessive cerebellar ataxias.
Constitutional rearrangement of SYT14 may contribute to macrocephaly, cerebral atrophy, seizures and developmental delay.
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.