OGFOD1
Description
The OGFOD1 (2-oxoglutarate and iron dependent oxygenase domain containing 1) is a protein-coding gene located on chromosome 16.
OGFOD1, also known as 2-oxoglutarate and iron-dependent oxygenase domain containing 1, is a human gene.
This prolyl 3-hydroxylase catalyzes the 3-hydroxylation of Pro-62 within the small ribosomal subunit uS12 (RPS23). This modification regulates the efficiency of protein translation termination. OGFOD1 is also implicated in the formation of stress granules. These findings are supported by various studies (PubMed:20154146, PubMed:24550447, PubMed:24550462).
OGFOD1 is also known as TPA1.
Associated Diseases
- retinitis pigmentosa
- Bardet-Biedl syndrome
- type 2 diabetes mellitus
- cancer
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin D disease
- delta-beta-thalassemia
- dominant beta-thalassemia
- hemoglobin C-beta-thalassemia syndrome
- hemoglobin E-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- hemoglobin E disease
