HDDC3
Description
The HDDC3 (HD domain containing 3) is a protein-coding gene located on chromosome 15.
HDDC3 is an enzyme that breaks down a molecule called ppGpp. ppGpp is involved in the body's response to starvation.
HDDC3 is also known as (ppGpp)ase, MESH1, MYNRL15.
Associated Diseases
- hemochromatosis type 2B
- sideroblastic anemia 3
- familial apolipoprotein C-II deficiency
- progressive familial intrahepatic cholestasis
- hemochromatosis type 2A
- cholestasis, progressive familial intrahepatic, 12
- Senior-Boichis syndrome
- severe congenital hypochromic anemia with ringed sideroblasts
- progressive familial intrahepatic cholestasis type 3
- CCDC115-CDG
- cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
- heterotaxy, visceral, 9, autosomal, with male infertility
- transient infantile hypertriglyceridemia and hepatosteatosis
- proteasome-associated autoinflammatory syndrome 5
- dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
- renal-hepatic-pancreatic dysplasia 1
