SEC24A
Description
The SEC24A (SEC24 homolog A, COPII coat complex component) is a protein-coding gene located on chromosome 5.
SEC24A is a protein encoded by the SEC24A gene in humans. It belongs to a family of proteins homologous to yeast Sec24. SEC24A is a component of COPII-coated vesicles, which are responsible for transporting proteins from the endoplasmic reticulum (ER) to other cellular locations.
SEC24A is a component of the COPII coat protein complex, which plays a crucial role in the formation of transport vesicles that bud from the endoplasmic reticulum (ER) and deliver cargo to the Golgi complex. COPII coats have two primary functions: physically shaping the ER membrane into vesicles and selecting specific cargo molecules for transport. SEC24A, along with SEC24B, exhibits distinct cargo selection preferences compared to SEC24C and SEC24D. It preferentially packages cargo with cytoplasmic DxE or LxxLE motifs and can also recognize conformational epitopes.
SEC24A is also known as -.
Associated Diseases
- combined low LDL and fibrinogen
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
- Crigler-Najjar syndrome type 2
- glycine N-methyltransferase deficiency
- hypervalinemia and hyperleucine-isoleucinemia
- TMEM199-CDG
- glycogen storage disease VI
- neonatal intrahepatic cholestasis due to citrin deficiency
- intrahepatic cholestasis
- bile acid conjugation defect 1
- progressive familial intrahepatic cholestasis
- Parkinson disease
- Crigler-Najjar syndrome type 1
