WDR24
Description
The WDR24 (WD repeat domain 24) is a protein-coding gene located on chromosome 16.
WDR24 is a protein encoded by the WDR24 gene in humans. It is a component of the GATOR2 complex.
WDR24 is a catalytic component of the GATOR2 complex, which activates the amino acid-sensing branch of the mTORC1 signaling pathway. GATOR2 indirectly activates mTORC1 by inhibiting the GATOR1 subcomplex. GATOR2 functions as an E3 ubiquitin-protein ligase towards GATOR1, specifically ubiquitinating the NPRL2 core component of GATOR1 in the presence of abundant amino acids, leading to GATOR1 inactivation. In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex. WDR24 plays a critical role in this process as the catalytic subunit within the GATOR2 complex, mediating 'Lys-6'-linked ubiquitination of NPRL2. Additionally, WDR24 contributes to lysosome acidification and facilitates autophagic flux.
WDR24 is also known as C16orf21, JFP7.
Associated Diseases
- substance abuse
- primary familial polycythemia due to EPO receptor mutation
- alpha thalassemia-intellectual disability syndrome type 1
- hemoglobin D disease
- Heinz body anemia
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- delta-beta-thalassemia
- hemoglobin C-beta-thalassemia syndrome
- erythrocytosis, familial, 3
- erythrocytosis, familial, 6
