AP3S1
Description
The AP3S1 (adaptor related protein complex 3 subunit sigma 1) is a protein-coding gene located on chromosome 5.
AP-3 complex subunit sigma-1 is a protein encoded by the AP3S1 gene in humans. It is part of the AP-3 complex, which is involved in vesicle budding from the Golgi membrane and may play a role in transporting materials to lysosomes. The AP-3 complex is associated with the Golgi region and other peripheral structures.
The AP-3 complex, which includes AP3S1, is not associated with clathrin and plays a role in vesicle budding from the Golgi membrane. This complex is found in the Golgi region and other peripheral structures. AP3S1 may be involved in the transport of materials to lysosomes. In collaboration with the BLOC-1 complex, AP-3 directs cargo into vesicles that originate from cell bodies and travel to neurites and nerve terminals.
AP3S1 is also known as CLAPS3, Sigma3A.
Associated Diseases
- lysosomal storage disease
- cancer
- diabetes mellitus, permanent neonatal 4
- isolated asymptomatic elevation of creatine phosphokinase
- diabetes mellitus, transient neonatal, 3
- permanent neonatal diabetes mellitus 1
- pentosuria
- glycogen storage disorder due to hepatic glycogen synthase deficiency
- uterine corpus endometrial carcinoma
- type 2 diabetes mellitus
