AP3M2
Description
The AP3M2 (adaptor related protein complex 3 subunit mu 2) is a protein-coding gene located on chromosome 8.
AP-3 complex, a non-clathrin adaptor complex, is involved in vesicle budding from the Golgi apparatus and plays a role in trafficking to lysosomes. It localizes to the Golgi region and peripheral structures. In collaboration with the BLOC-1 complex, AP-3 is essential for directing cargo into vesicles formed at cell bodies, ensuring delivery to neurites and nerve terminals.
AP3M2 is also known as AP47B, CLA20, P47B.
Associated Diseases
- juvenile myoclonic epilepsy
- Jeavons syndrome
- developmental and epileptic encephalopathy, 9
- developmental and epileptic encephalopathy, 19
- continuous spikes and waves during sleep
- benign familial infantile epilepsy
- childhood absence epilepsy
- generalized epilepsy with febrile seizures plus, type 2
- developmental and epileptic encephalopathy, 13
- juvenile absence epilepsy
- Unverricht-Lundborg syndrome
- developmental and epileptic encephalopathy, 54
- generalized epilepsy with febrile seizures plus, type 7
- lissencephaly 10
- Dravet syndrome
- episodic ataxia type 5
