Analysis of SYT14 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0302-LGZ)

Introduction

Official Full Name: synaptotagmin 14
Also known as: SCAR11; sytXIV
This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediates membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptic protein. Mutations in this gene are responsible for autosomal recessive spinocerebellar ataxia-11 (SCAR11), and the t(1;3) translocation of this gene is associated with neurodevelopmental abnormalities. There are alternatively spliced transcript variants encoding multiple isoforms of this gene, and the pseudogene of this gene is located on the long arm of chromosome 4.