WDR41
Description
The WDR41 (WD repeat domain 41) is a protein-coding gene located on chromosome 5.
WDR41 is a protein that forms part of the C9orf72-SMCR8 complex, which is involved in regulating autophagy. The complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation. The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ULK1/ATG1 kinase complex and inhibiting its protein kinase activity.
WDR41 is a non-catalytic component of the C9orf72-SMCR8 complex, which acts as a guanine nucleotide exchange factor (GEF) and regulates autophagy. The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation. WDR41 contributes to the stimulation of RAB8A and RAB11A GTPase activity in vitro within the complex, but is not essential for this function. The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ULK1/ATG1 kinase complex and inhibiting its protein kinase activity.
WDR41 is also known as MSTP048.
Associated Diseases
- hemoglobin D disease
- hemoglobin E-beta-thalassemia syndrome
- dehydrated hereditary stomatocytosis
- dominant beta-thalassemia
- immunodeficiency 37
- hemoglobin E disease
- autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- delta-beta-thalassemia
