SNAPIN
Description
The SNAPIN (SNAP associated protein) is a protein-coding gene located on chromosome 1.
SNAPIN is a protein that plays a role in the biogenesis of lysosome-related organelles (LROs), including platelet dense granules and melanosomes. It is a component of the BLOC-1 complex, which works in concert with the AP-3 complex to target membrane protein cargos into vesicles for delivery to neurites and nerve terminals. SNAPIN is also involved in neurite extension and is thought to regulate synaptic vesicle exocytosis. It may modulate the interaction of synaptotagmin with SNAREs and SNAP25, influencing vesicle priming, fusion, and calcium-dependent neurotransmitter release. SNAPIN's phosphorylation state can influence exocytotic protein interactions. Additionally, as part of the BORC complex, SNAPIN may play a role in lysosome movement and localization at the cell periphery. The BORC complex is associated with the cytosolic face of lysosomes and may recruit ARL8B to couple lysosomes to microtubule plus-end-directed kinesin motors.
SNAPIN is also known as BLOC1S7, BLOS7, BORCS3, SNAPAP.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- isolated hyperchlorhidrosis
- pentosuria
- Liddle syndrome 2
- hypoparathyroidism, familial isolated, 2
- myopathy due to calsequestrin and SERCA1 protein overload
- hearing loss-familial salivary gland insensitivity to aldosterone syndrome
- pseudohypoaldosteronism, type IB2, autosomal recessive
- metabolic myopathy due to lactate transporter defect
- hyperkalemic periodic paralysis
- familial hyperaldosteronism type II
- pseudohypoaldosteronism type 2B
- pseudohypoaldosteronism type 2D
- familial primary pulmonary hypoplasia
- hereditary recurrent myoglobinuria
- nephrogenic syndrome of inappropriate antidiuresis
