ABCE1
Description
The ABCE1 gene encodes a protein called ATP-binding cassette sub-family E member 1, which plays a critical role in cellular processes such as protein synthesis, ribosome biogenesis, and immune response. ABCE1 is highly conserved across different species, suggesting its essential role in cellular function. This gene is found on chromosome 19q13.32, and mutations in this gene have been linked to a variety of genetic disorders.
Associated Diseases
- Diamond-Blackfan anemia (DBA): A rare blood disorder characterized by a deficiency in red blood cells.
- Ribosomal protein disorders: A group of genetic conditions affecting the production of ribosomes, leading to various developmental problems.
- Immunodeficiency: Impaired immune system function due to disruptions in protein synthesis and immune cell development.
- Neurodevelopmental disorders: Some studies suggest a potential link between ABCE1 mutations and neurodevelopmental abnormalities.
Did you know?
ABCE1 is an essential gene, meaning that its absence can be lethal in model organisms.
