LOC101927142
Loc101927142: An In-Depth Exploration
Description
Loc101927142, also known as neuropilin-2, is a transmembrane protein that plays a crucial role in the development and function of the nervous system. It belongs to the neuropilin family of proteins, which are characterized by their ability to bind to specific growth factors and regulate cellular responses.
Associated Diseases
Mutations or disruptions in Loc101927142 have been linked to several developmental disorders, including:
- Seckel syndrome: A rare genetic disorder characterized by severe growth restriction, microcephaly (small head size), and intellectual disabilities.
- Microcephaly, ventriculomegaly, and chorioretinopathy multiplex (MVMCM): A rare genetic disorder characterized by microcephaly, an enlarged ventricle in the brain, and eye abnormalities.
- Joubert syndrome: A genetic disorder characterized by a lack of coordination, developmental delays, and distinctive brain abnormalities.
Did you Know ?
Studies have shown that mutations in Loc101927142 are a relatively common cause of Seckel syndrome, accounting for approximately 10-15% of cases.
