LOC284581
Loc284581
Description
Loc284581 is a gene located on chromosome 20q13.11. It encodes a protein called transmembrane protein 119 (TMEM119), which is involved in various cellular processes, including cell adhesion, migration, and survival. Studies have shown that mutations in the loc284581 gene can lead to severe neurological and developmental disorders.
Associated Diseases
Mutations in the loc284581 gene have been linked to several conditions, including:
- Pontocerebellar hypoplasia type 2B (PCH2B): PCH2B is a rare neurodegenerative disorder characterized by progressive degeneration of the cerebellum and brainstem. It typically presents in infancy or early childhood with symptoms such as delayed motor milestones, hypotonia (low muscle tone), and cognitive impairment.
- Microcephaly and intellectual disability: Mutations in loc284581 have been associated with microcephaly (abnormally small head size) and intellectual disability in some individuals.
- Autism spectrum disorder (ASD): Some studies have suggested an association between loc284581 mutations and ASD. However, more research is needed to confirm this link.
Did you Know ?
Approximately 1 in 1,000,000 individuals worldwide are affected by pontocerebellar hypoplasia type 2B due to mutations in the loc284581 gene.
