FAM192A
FAM192A: An Essential Gene with Intriguing Implications
Description
FAM192A (family with sequence similarity 192, member A) is a gene that encodes a protein known as FAM192A. This protein is a component of the nuclear pore complex (NPC), a structure that regulates the movement of molecules between the nucleus and cytoplasm of cells. The NPC is essential for cellular function, and FAM192A plays a crucial role in its assembly and maintenance.
Associated Diseases
Mutations in the FAM192A gene have been linked to several diseases, including:
- Schimke immuno-osseous dysplasia (SIOD): A rare genetic disorder characterized by short stature, bone abnormalities, and immune system deficiencies.
- Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A severe form of dwarfism with microcephaly, skeletal malformations, and intellectual disabilities.
- Neurodevelopmental disorders: Some mutations in FAM192A have been associated with developmental delays, autism spectrum disorder, and intellectual disabilities.
Did you Know ?
Studies have shown that mutations in FAM192A are responsible for approximately 10-15% of cases of SIOD.
