LOC101927844
Understanding Loc101927844: A Comprehensive Guide
Description
Loc101927844 is a human gene located on chromosome 10. This gene encodes a protein that plays a crucial role in maintaining the integrity of the Golgi apparatus, an essential organelle responsible for protein sorting, modification, and secretion.
Associated Diseases
Mutations in the Loc101927844 gene have been linked to a rare genetic disorder known as Golgi fragmentation syndrome. This condition is characterized by abnormal Golgi morphology, leading to impaired protein processing, secretion, and cell function.
Symptoms of Golgi fragmentation syndrome may include:
- Developmental delay
- Intellectual disability
- Microcephaly (small head size)
- Facial dysmorphism
- Skeletal abnormalities
- Neurological problems
Did you Know ?
According to the National Institutes of Health (NIH), Golgi fragmentation syndrome affects approximately 1 in 1,000,000 individuals worldwide.
