ATL2
Description
The ATL2 (atlastin GTPase 2) is a protein-coding gene located on chromosome 2.
Atlastin-2 functions as a GTPase that tethers membranes by forming trans-homooligomers. This process facilitates the homotypic fusion of endoplasmic reticulum (ER) membranes, which is crucial for the biogenesis of the ER tubular network.
ATL2 is also known as ARL3IP2, ARL6IP2, aip-2, atlastin2.
Associated Diseases
- Alzheimer disease
- multiple sclerosis
- Parkinson disease
- lysosomal storage disease
- hemoglobin D disease
- alpha-thalassemia-myelodysplastic syndrome
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- X-linked sideroblastic anemia 1
- alpha thalassemia-intellectual disability syndrome type 1
- dominant beta-thalassemia
- hemoglobin E-beta-thalassemia syndrome
- hemoglobin E disease
- delta-beta-thalassemia
- hemoglobin C-beta-thalassemia syndrome
- X-linked severe congenital neutropenia
