AP3D1
Description
AP3D1, also known as the adaptor protein complex 3, subunit delta 1, plays a crucial role in intracellular protein trafficking. It is a component of the AP-3 complex, which is involved in the sorting and delivery of cargo proteins to lysosomes, endosomes, and other organelles. AP3D1 is expressed in various tissues, including the brain, liver, and kidneys. Mutations in the AP3D1 gene can lead to a range of inherited disorders, primarily affecting the nervous system and immune system.
Associated Diseases
- Hereditary Spastic Paraplegia Type 5 (SPG5): A neurodegenerative disorder characterized by progressive weakness and spasticity in the lower limbs.
- Griscelli Syndrome Type 2: A rare disorder characterized by albinism, immunodeficiency, and neurological abnormalities.
- Severe Congenital Neutropenia: A condition marked by an abnormally low number of neutrophils, leading to increased susceptibility to infections.
- Other neurological and immune disorders: Some studies suggest a potential association between AP3D1 mutations and other neurological and immune conditions.
Did you know?
AP3D1 is a relatively recently discovered gene, with its function and role in disease being actively investigated.
