External Ids for SYP Gene
Previous GeneCards Identifiers for SYP Gene
This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]
GeneCards Summary for SYP Gene
SYP (Synaptophysin) is a Protein Coding gene. Diseases associated with SYP include Mental Retardation, X-Linked 96 and X-Linked Non-Specific Intellectual Disability. Among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein domain specific binding. An important paralog of this gene is SYNPR.
UniProtKB/Swiss-Prot for SYP Gene
Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity).