LOC100132111
Description
Loc100132111 is a gene located on chromosome 10 in humans. It encodes a protein called LOC100132111, which is involved in various cellular processes, including RNA metabolism, protein synthesis, and signal transduction.
Associated Diseases
Mutations in the LOC100132111 gene have been linked to several rare genetic disorders, including:
- Intellectual disability, global developmental delay, and behavioral problems: This is the most common condition associated with LOC100132111 mutations. Individuals with this disorder often have difficulty with language, learning, and social interactions.
- Congenital heart defects: Some mutations in LOC100132111 have been found to cause structural heart defects, such as atrial septal defect and pulmonary stenosis.
- Skeletal abnormalities: Certain mutations in this gene have been linked to skeletal problems, such as scoliosis and kyphosis.
Did you Know ?
- Only about 200 individuals worldwide have been identified with mutations in the LOC100132111 gene.
