LOC286238
Loc286238: A Comprehensive Guide
Description
Loc286238 is a human gene located on chromosome 8. It encodes a protein known as DENN domain-containing protein 5B (DENND5B), which plays a crucial role in cell membrane dynamics and vesicle trafficking. DENND5B is involved in various cellular processes, including endocytosis, exocytosis, and autophagy.
Associated Diseases
Mutations in the loc286238 gene have been linked to several inherited disorders, including:
- Cohen Syndrome: A rare genetic disorder characterized by intellectual disability, distinctive facial features, and developmental delays.
- Joubert Syndrome: A genetic condition characterized by cerebellar ataxia, eye movement abnormalities, and intellectual disability.
- Isolated Microcephaly: A condition characterized by an abnormally small head circumference.
Did you Know ?
Approximately 1 in 200,000 individuals worldwide are affected by Cohen Syndrome, making it one of the rarest genetic diseases.
