AP1G2
Description
The AP1G2 (adaptor related protein complex 1 subunit gamma 2) is a protein-coding gene located on chromosome 14.
AP-1 complex subunit gamma-like 2 is a protein encoded by the AP1G2 gene in humans. Adaptins, including AP1G2, are crucial components of clathrin-coated vesicles. These vesicles transport ligand-receptor complexes from the plasma membrane or the trans-Golgi network to lysosomes. Adaptins form heterotetrameric complexes called adaptors with other subunits, which contribute to the formation of clathrin-coated pits and vesicles. AP1G2 is a gamma-adaptin protein, part of the adaptor complexes large subunits family. It is thought to play a role in trafficking between the trans-Golgi network and the cell surface. There are two alternatively spliced transcript variants of this gene, both encoding the same protein. AP1G2 has been shown to interact with NEDD4.
AP1G2 might play a role in the sorting of proteins within late endosomes or multivesicular bodies (MVBs).
AP1G2 is also known as G2AD.
Associated Diseases
- Gorham-Stout disease
- melorheostosis
- dacryocystitis-osteopoikilosis syndrome
- 12q14 microdeletion syndrome
- pyknoachondrogenesis
- osteomesopyknosis
- gnathodiaphyseal dysplasia
- autosomal recessive hypophosphatemic rickets
- Alzheimer disease
- bipolar disorder
