LOC100505622
Loc100505622: A Comprehensive Guide
Description
Loc100505622 is a protein encoded by the LUC7L2 gene located on chromosome 19 in humans. This protein is a component of the nuclear pore complex (NPC), a large structure that facilitates the transport of molecules between the nucleus and cytoplasm. Loc100505622 is specifically involved in the assembly and maintenance of the NPC.
Associated Diseases
Mutations in the LUC7L2 gene have been associated with several human diseases, including:
- Axenfeld-Rieger Syndrome: A rare genetic disorder characterized by eye abnormalities, such as iridogoniodysgenesis (defects in the iris and drainage angle of the eye) and glaucoma.
- Microcephaly: A condition in which the head is abnormally small, often due to impaired brain development.
- Developmental Delay: A delay in reaching developmental milestones, such as motor skills, speech, or cognitive abilities.
- Intellectual Disability: Significant impairments in intellectual functioning that affect daily life.
Did you Know ?
Studies have shown that approximately 10% of individuals diagnosed with Axenfeld-Rieger Syndrome have mutations in the LUC7L2 gene. This emphasizes the importance of genetic testing in identifying the underlying cause of this condition.
