LOC100132146
Loc100132146: A Comprehensive Overview
Description
Loc100132146, also known as Coiled-Coil Domain-Containing Protein 120 (CCDC120), is a crucial protein involved in various cellular processes, including cell division, cytoskeleton organization, and cell adhesion. It is primarily localized to the cytoplasm and plays a significant role in maintaining cell shape and structure.
Associated Diseases
Mutations in the CCDC120 gene have been linked to several genetic disorders, including:
- Microcephalic Primal Dwarfism: A rare genetic disorder characterized by extreme short stature, microcephaly (small head size), and intellectual disability.
- Seckel Syndrome: Another rare genetic disorder similar to microcephalic primal dwarfism, but with additional features such as distinctive facial features and skeletal abnormalities.
- Autosomal Dominant Congenital Cataract with Microcornea: A condition that causes congenital cataracts (clouding of the lens of the eye) and microcornea (small-sized cornea).
Did you Know ?
According to a study published in the journal "Genetics in Medicine," mutations in the CCDC120 gene account for approximately 10% of cases of microcephalic primal dwarfism.
