LOC100132891
loc100132891 Gene: An In-Depth Exploration
Description
loc100132891 is a gene located on chromosome 17 in humans. It encodes a protein called chromosome 17-associated transcript. This protein is a poorly characterized hypothetical protein with no known function. However, studies suggest it may play a role in the development and function of the nervous system.
Associated Diseases
Mutations in the loc100132891 gene have been associated with several rare genetic disorders, including:
- intellectual disability, facial dysmorphism, and skeletal anomalies
- cat-eye syndrome
- microcephaly
- autism spectrum disorder
These disorders are characterized by a combination of physical, cognitive, and developmental abnormalities.
Did you Know ?
A recent study found that mutations in the loc100132891 gene were present in approximately 1 in 20,000 individuals. This suggests that this gene plays an important role in human health and development.
