ANKRD13A
Description
The ANKRD13A (ankyrin repeat domain 13A) is a protein-coding gene located on chromosome 12.
ANKRD13A is a ubiquitin-binding protein that specifically interacts with 'Lys-63'-linked ubiquitin chains. It does not bind to 'Lys-48'-linked ubiquitin. ANKRD13A plays a role in regulating the internalization of activated EGFR (epidermal growth factor receptor) by binding to the ubiquitinated EGFR at the cell membrane, promoting its uptake into the cell.
ANKRD13A is also known as ANKRD13, NY-REN-25.
Associated Diseases
- hemoglobin D disease
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- dehydrated hereditary stomatocytosis
- hemoglobin E disease
- dominant beta-thalassemia
- Rh deficiency syndrome
- beta-thalassemia-X-linked thrombocytopenia syndrome
- elliptocytosis 2
- familial isolated congenital asplenia
- hereditary spherocytosis type 4
- congenital dyserythropoietic anemia type 4
- alpha-thalassemia-myelodysplastic syndrome
