RAB40C
Description
The RAB40C (RAB40C, member RAS oncogene family) is a protein-coding gene located on chromosome 16.
RAB40C acts as a substrate recognition component within a specific type of protein complex called an SCF-like ECS E3 ubiquitin ligase. This complex plays a crucial role in tagging proteins for degradation by attaching ubiquitin molecules to them. This tagging process marks the targeted proteins for eventual breakdown by the proteasome.
RAB40C is also known as RARL, RASL8C.
Associated Diseases
- hemoglobin E-beta-thalassemia syndrome
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin D disease
- microcytic anemia with liver iron overload
- familial pseudohyperkalemia
- delta-beta-thalassemia
- dominant beta-thalassemia
- cryohydrocytosis
- hemoglobin C-beta-thalassemia syndrome
