C18orf25
Exploring the Intriguing World of c18orf25: A Comprehensive Guide
Description
c18orf25, also known as Chromosome 18 Open Reading Frame 25, is a gene that encodes a protein of the same name. This protein is a component of the nuclear pore complex, which facilitates the transport of molecules between the nucleus and the cytoplasm. Mutations in the c18orf25 gene have been linked to several genetic disorders.
Associated Diseases
Mutations in the c18orf25 gene have been associated with the following diseases:
- Seckel Syndrome: A rare genetic condition characterized by severe growth restriction, microcephaly (small head), and facial abnormalities.
- Microcephaly (Primary Microcephaly): A condition in which the brain is abnormally small, leading to developmental delays, cognitive impairment, and other health issues.
- CHARGE Syndrome: A complex genetic disorder that affects multiple body systems, including the eyes, heart, kidneys, and ears.
- Isolated Microcephaly: A condition where the brain is abnormally small, but there are no other major birth defects or genetic syndromes present.
Did you Know ?
Approximately 1 in 100,000 individuals are affected by Seckel Syndrome, highlighting the rarity of c18orf25-related disorders.
