LOC100506801
Loc100506801: An In-Depth Exploration
Description
Loc100506801 is a novel protein that plays a role in cellular differentiation, growth, and development. It is encoded by the LOC100506801 gene, which is located on chromosome 10 in humans. The protein is composed of 368 amino acids and is characterized by a highly conserved amino terminal domain.
Associated Diseases
Mutations in the LOC100506801 gene have been linked to several rare genetic disorders, including:
- Cornelia de Lange syndrome: This syndrome is characterized by dysmorphic facial features, intellectual disability, and growth retardation.
- Microcephaly: This condition is defined by an abnormally small head circumference.
- Spondyloepiphyseal dysplasia congenita: This disorder affects the development of the spine and joints.
- Autism spectrum disorder: Mutations in LOC100506801 have been associated with an increased risk of developing autism spectrum disorder.
Did you Know ?
Approximately 1 in 50,000 people worldwide are affected by a genetic disorder caused by mutations in the LOC100506801 gene.
