LOC392364
Loc392364: A Comprehensive Guide
Description
Loc392364, also known as the LOC392364 gene, is a protein-coding gene located on the long arm (q) of chromosome 3 at position 31.1. It is a relatively small gene, consisting of only 4 exons and spanning approximately 10 kilobases (kb) of genomic DNA.
The LOC392364 gene encodes a protein known as hypothetical protein LOC392364. This protein is predicted to be between 200 to 300 amino acids in length and contains a number of conserved domains and motifs, including a putative transmembrane domain and several potential protein-protein interaction sites. However, the precise function of the LOC392364 protein is still unknown.
Associated Diseases
Mutations in the LOC392364 gene have been implicated in the development of several human diseases, including:
- Epilepsy: Mutations in LOC392364 have been linked to a rare form of epilepsy known as familial focal epilepsy with variable foci (FFEVF). FFEVF is characterized by recurrent seizures that originate from different parts of the brain.
- Intellectual disability: Mutations in LOC392364 have also been associated with intellectual disability, a condition characterized by significant deficits in intellectual functioning and adaptive behavior.
- Autism spectrum disorder (ASD): Some studies have suggested a possible association between mutations in LOC392364 and ASD, a developmental disorder characterized by difficulties with social interaction and communication. However, more research is needed to confirm this association.
Did you Know ?
- Approximately 1 in 20,000 individuals is estimated to carry a mutation in the LOC392364 gene.
