| SYT14 Gene | |
|---|---|
| Symbol | SYT14 |
| Full Name | Synaptotagmin 14 |
| Location | 1q32.2 |
| NCBI Gene ID | [23206](https://www.ncbi.nlm.nih.gov/gene/23206) |
| OMIM | [610949](https://www.omim.org/entry/610949) |
| Ensembl | [ENSG00000163913](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163913) |
| UniProt | [Q8NBH8](https://www.uniprot.org/uniprot/Q8NBH8) |
| Associated Diseases | Autosomal recessive spinocerebellar ataxia, Cerebellar ataxia |
SYT14 is a human gene whose product synaptotagmin 14 (SYT14) is a member of the synaptotagmin family, transmembrane proteins that function as calcium sensors in synaptic vesicle exocytosis and membrane trafficking. SYT14 contains two C2 domains (C2A and C2B) that bind calcium ions and mediate interactions with phospholipid membranes, enabling regulated vesicle fusion [1]. Variants in SYT14 have been implicated in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13), Other Neurological Manifestations. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
Synaptotagmin 14 (SYT14) is a member of the synaptotagmin family, transmembrane proteins that function as calcium sensors in synaptic vesicle exocytosis and membrane trafficking. SYT14 contains two C2 domains (C2A and C2B) that bind calcium ions and mediate interactions with phospholipid membranes, enabling regulated vesicle fusion [1].
Unlike the well-characterized SYT1, which triggers fast neurotransmitter release, SYT14 has distinct calcium-binding properties and may regulate slower forms of secretion or maintain synaptic vesicle pools. SYT14 is particularly important in the cerebellum, where it supports the function of Purkinje cells and parallel fiber synapses [2].
Key functions of SYT14 include:
Biallelic loss-of-function mutations in SYT14 cause autosomal recessive spinocerebellar ataxia type 13 (SCAR13). Patients present with:
The disease mechanism involves impaired calcium-dependent vesicle release in cerebellar circuits, disrupting motor coordination and cerebellar learning.
SYT14 variants have been associated with:
SYT14 shows high expression in:
During development, SYT14 expression increases during postnatal cerebellar maturation, peaking during the period of synapse formation and motor circuit refinement [5].
For SYT14-related ataxia, AAV-mediated gene replacement targeting the cerebellum represents a potential therapeutic approach, though this remains in preclinical development.
Current management focuses on:
Enhancing residual SYT14 function or compensating through related synaptotagmin family members (e.g., SYT1, SYT2) may provide therapeutic benefit.