YAE1D1
The YAE1D1 Gene: Unveiling Its Role in Health and Disease
Description
The yae1d1 gene encodes a protein known as Yae1 domain-containing protein 1 (YAE1D1). It is located on chromosome 10 in humans and plays a crucial role in various cellular processes, including RNA metabolism, DNA repair, and cell cycle regulation.
Associated Diseases
Mutations in the YAE1D1 gene have been linked to several genetic disorders, including:
- Ataxia-telangiectasia-like disorder (ATLD): A rare autosomal recessive condition characterized by progressive cerebellar ataxia, immunodeficiency, and increased risk of cancer.
- Microcephaly with chorioretinal atrophy: A developmental disorder marked by an abnormally small head circumference and impaired vision due to chorioretinal degeneration.
- Autosomal recessive optic atrophy (AOA6): A progressive eye disease that leads to vision loss in both eyes.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide are estimated to carry a mutation in the YAE1D1 gene. However, the prevalence of associated diseases varies significantly among different populations.
