RAB40AL
Description
The RAB40AL (RAB40A like) is a protein-coding gene located on chromosome X.
RAB40AL is thought to act as a substrate recognition component within a specific type of E3 ubiquitin ligase complex known as SCF-like ECS. This complex plays a crucial role in tagging target proteins with ubiquitin, marking them for degradation by the proteasome.
RAB40AL is also known as MRXSMP, RAR2, RLGP.
Associated Diseases
- deafness-intellectual disability, Martin-Probst type syndrome
- 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
