SEMG1
Semg1 Gene: A Comprehensive Guide
Description
The semg1 gene encodes a protein known as semg1 homolog, transmembrane protein 1. This protein is an integral membrane protein that plays a crucial role in maintaining proper cell function, particularly in the nervous system. Semg1 is highly expressed in the developing brain and spinal cord, and its levels decrease as the organism matures.
Associated Diseases
Mutations in the semg1 gene have been linked to a rare neurodevelopmental disorder called Noonan syndrome with multiple lentigines (NSML). NSML is characterized by a specific set of physical features, including distinctive facial features, short stature, heart defects, and multiple dark brown spots or lentigines on the skin.
Did you Know ?
Approximately 1 in 200,000 newborns are affected by NSML, making it a relatively rare disorder.
