SNAP23
Description
The SNAP23 (synaptosome associated protein 23) is a protein-coding gene located on chromosome 15.
SNAP23 is a protein encoded by the SNAP23 gene in humans. Two alternative transcript variants encoding different protein isoforms have been described. SNAP23 plays a crucial role in regulating the specificity of vesicular transport by interacting with synaptobrevin/VAMP (a vesicle-associated membrane protein) and syntaxin (a target compartment membrane protein). Along with SNAP25, these proteins form a complex that serves as a binding site for the general membrane fusion machinery. SNAP23 is structurally and functionally similar to SNAP25 and is essential for the high-affinity receptor for the general membrane fusion machinery. SNAP23 is a key regulator of transport vesicle docking and fusion. In individuals with insulin resistance, SNAP23 is translocated from the plasma membrane to the cytosol where it becomes associated with lipid droplets, hindering glucose transport.
SNAP23 is a crucial component of the high-affinity receptor for general membrane fusion machinery, playing a vital role in regulating the docking and fusion of transport vesicles.
SNAP23 is also known as HsT17016, SNAP-23, SNAP23A, SNAP23B.
Associated Diseases
- ringed hair disease
- Griscelli syndrome type 3
- type 2 diabetes mellitus
- uncombable hair syndrome
- microcephaly-albinism-digital anomalies syndrome
- pili bifurcati
- oculocutaneous albinism type 3
- alopecia, androgenetic, 1
- wooly hair, autosomal recessive 3
