RAB40B
Description
The RAB40B (RAB40B, member RAS oncogene family) is a protein-coding gene located on chromosome 17.
RAB40B might function as a substrate recognition component within an SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex. This complex plays a role in the ubiquitination and subsequent proteasomal degradation of target proteins.
RAB40B is also known as RAR, SEC4L.
Associated Diseases
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- alpha thalassemia-intellectual disability syndrome type 1
- delta-beta-thalassemia
- hemoglobin D disease
- hemoglobin E-beta-thalassemia syndrome
- hemolytic anemia due to adenylate kinase deficiency
- hemoglobin C-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- Heinz body anemia
- dominant beta-thalassemia
- hemoglobin H disease
- hemoglobin M disease
- hemoglobin E disease
