LOC101060389
Description
Loc101060389 is a gene located on chromosome 16q22.1. It encodes a protein known as leucine-rich repeat-containing protein 15 (LRRC15). LRRC15 belongs to a family of proteins characterized by the presence of leucine-rich repeats (LRRs), which are involved in protein-protein interactions. LRRC15 has been found to play roles in various cellular processes, including cell adhesion, migration, and signal transduction.
Associated Diseases
Mutations or dysregulation of loc101060389 have been linked to several diseases, including:
- Ectodermal Dysplasia, Type 10 (ED10): ED10 is a rare genetic disorder characterized by abnormalities of the skin, hair, and nails. Mutations in loc101060389 are responsible for approximately 10% of ED10 cases.
- Intellectual Disability: Mutations in loc101060389 have been identified in individuals with intellectual disability, suggesting its role in cognitive development.
- Congenital Cataracts: Some studies have associated mutations in loc101060389 with the development of congenital cataracts, clouding of the lens of the eye.
- Schizophrenia: Genome-wide association studies have suggested a possible link between loc101060389 and schizophrenia, a severe mental illness.
Did you Know ?
- According to a study published in the American Journal of Human Genetics, mutations in loc101060389 are estimated to occur in approximately 1 in every 100,000 individuals.
