LOC101928580
Loc101928580: An Overview
Description
Loc101928580 is a gene located on chromosome 10. It encodes a protein known as microtubule-associated protein 1B (MAP1B). MAP1B is a microtubule-stabilizing protein that is involved in neuronal development and function.
Associated Diseases
Defects in loc101928580 have been linked to several neurological diseases, including:
- Lissencephaly: A rare brain malformation characterized by smooth cerebral hemispheres and agenesis of the corpus callosum.
- Microcephaly: A condition in which the head is abnormally small, often accompanied by intellectual disability.
- Autism spectrum disorder (ASD): A neurodevelopmental disorder characterized by social communication deficits and repetitive behaviors.
Did you Know ?
According to a 2017 study published in the journal Nature Genetics, mutations in loc101928580 are found in approximately 1 in every 10,000 individuals with autism spectrum disorder.