ANKRD50
Description
The ANKRD50 (ankyrin repeat domain containing 50) is a protein-coding gene located on chromosome 4.
ANKRD50 plays a role in the movement of certain proteins from endosomes to the cell surface and back again. This process is important for recycling proteins like GLUT1, which is a glucose transporter. ANKRD50 works with a protein complex called SNX27-retromer to carry out this trafficking.
ANKRD50 is also known as -.
Associated Diseases
- type 1 diabetes mellitus
- schizophrenia 15
- Phelan-McDermid syndrome
- Potocki-Lupski syndrome
- FRAXE intellectual disability
- intellectual developmental disorder, X-linked, syndromic, Pilorge type
