LOC643802
Loc643802: A Mysterious Gene and Its Role in Disease
Description
Loc643802 is a gene located on chromosome 1q21.3. It encodes a protein that is highly conserved across species, suggesting an important function. However, the exact function of this protein and the role of loc643802 in human health is still poorly understood.
Associated Diseases
Studies have linked mutations in loc643802 to several rare genetic disorders, including:
- Holoprosencephaly: A severe brain malformation that occurs during early fetal development, characterized by a single cerebral hemisphere.
- Microcephaly: An abnormally small head size due to incomplete brain development before birth.
- Intellectual disability: Cognitive deficits ranging from mild to severe.
- Autism spectrum disorder (ASD): A complex neurodevelopmental condition that affects social interaction and communication skills.
Did you Know ?
Despite its rarity, mutations in loc643802 account for approximately 1% of all cases of holoprosencephaly, highlighting the significant impact this gene can have on brain development.
