RAB40A
Description
The RAB40A (RAB40A, member RAS oncogene family) is a protein-coding gene located on chromosome X.
Rab-40A is a protein found in humans. It is produced from the RAB40A gene.
Rab-40A might be part of a protein complex called SCF-like ECS, which tags other proteins for destruction. This process involves attaching a small molecule called ubiquitin, which signals for the protein to be broken down in a cellular compartment called the proteasome.
RAB40A is also known as RAR2, RAR2A.
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
- hereditary spherocytosis type 3
