RHBDF1
Description
The RHBDF1 (rhomboid 5 homolog 1) is a protein-coding gene located on chromosome 16.
RHBDF1, also known as iRhom1 (inactive rhomboid protein 1) or rhomboid 5 homolog 1, is a protein encoded by the RHBDF1 gene in humans. While it belongs to the rhomboid family of intramembrane serine proteases, RHBDF1 is catalytically inactive.
RHBDF1 is also known as C16orf8, Dist1, EGFR-RS, gene-89, gene-90, hDist1.
Associated Diseases
- alpha thalassemia-intellectual disability syndrome type 1
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin E-beta-thalassemia syndrome
- hemoglobin D disease
- delta-beta-thalassemia
- alpha-thalassemia-myelodysplastic syndrome
- hemoglobin C-beta-thalassemia syndrome
- pyropoikilocytosis, hereditary
- Heinz body anemia
