LOC101928809
Loc101928809: An Intriguing Gene Linked to Eye and Brain Development
Description:
Loc101928809 is a gene located on chromosome 16q24.3. It plays a crucial role in the development of the eyes and the brain. The gene encodes a protein that is involved in the formation of the retinal ganglion cells (RGCs), which are responsible for transmitting visual information from the eye to the brain.
Associated Diseases:
Mutations in the loc101928809 gene have been linked to a range of eye and brain disorders, including:
- Microphthalmia: A condition in which one or both eyes are abnormally small.
- Anophthalmia: A severe condition in which one or both eyes are absent at birth.
- Coloboma: A defect in the structure of the eye that can affect the iris, pupil, or retina.
- Microcephaly: A condition in which the head is abnormally small due to incomplete brain development.
- Intellectual disability: A general term for difficulties in cognitive function that affect everyday life.
Did you Know ?
Approximately 1 in 10,000 individuals are affected by a mutation in the loc101928809 gene.