SYT14

Description

The SYT14 (synaptotagmin 14) is a protein-coding gene located on chromosome 1.

SYT14 is a human gene that encodes a protein belonging to the synaptotagmin family. These proteins are involved in the process of membrane trafficking, particularly in synaptic transmission. The SYT14 protein is unique in that it does not require calcium for its function. Mutations in this gene have been linked to a genetic disorder characterized by progressive loss of coordination (spinocerebellar ataxia) and mental developmental delays.

SYT14 plays a role in the movement and release of secretory vesicles, which are small sacs that contain substances that need to be released from cells, in non-neuronal tissues. Unlike other members of its family, SYT14 does not require calcium ions for its activity.

SYT14 is also known as SCAR11, sytXIV.

Associated Diseases

• Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
• Spinocerebellar ataxia, autosomal recessive 11