LOC401052
loc401052: An Overview
Description:
LOC401052 is a gene located on the long arm of chromosome 12. It encodes a protein called HNRNPH3, which is involved in regulating the stability and translation of messenger RNA (mRNA). mRNA is responsible for carrying genetic information from DNA to the ribosomes, where proteins are synthesized.
Associated Diseases:
Mutations in the LOC401052 gene have been linked to several rare genetic disorders, including:
- Central Congenital Hypoventilation Syndrome (CCHS): A severe respiratory condition that affects newborns and results in insufficient ventilation at birth.
- Robin Sequence: A facial anomaly characterized by a small jaw, a receding chin, and a cleft palate.
- Miller-Dieker Syndrome: A rare neurodevelopmental disorder that causes intellectual disability, seizures, and distinctive facial features.
- Pena-Shokeir Syndrome II: A genetic syndrome that features intellectual disability, seizures, and developmental delays.
Did you Know ?
Mutations in the LOC401052 gene are estimated to occur in about 1 in 100,000 individuals. However, the exact prevalence of LOC401052-related disorders is unknown due to the rarity of these conditions.
