HDDC2
Description
The HDDC2 (HD domain containing 2) is a protein-coding gene located on chromosome 6.
HDDC2 acts as an enzyme, specifically a 5‘-deoxynucleotidase, that removes phosphate groups from specific deoxyribonucleotide monophosphates (dAMP, dCMP, dGMP, and dTMP).
HDDC2 is also known as C6orf74, CGI-130, NS5ATP2, dJ167O5.2.
Associated Diseases
- hemoglobin E-beta-thalassemia syndrome
- hemoglobin D disease
- megaloblastic anemia, folate-responsive
- formiminoglutamic aciduria
- dehydrated hereditary stomatocytosis
- 22q11.2 deletion syndrome
- Fanconi anemia complementation group V
- atypical hemolytic-uremic syndrome with thrombomodulin anomaly
- atypical hemolytic-uremic syndrome with I factor anomaly
- atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- atypical hemolytic-uremic syndrome with B factor anomaly
- congenital dyserythropoietic anemia type 4
- X-linked sideroblastic anemia 1
