EML1
Description
The EML1 (EMAP like 1) is a protein-coding gene located on chromosome 14.
EML1 (Echinoderm microtubule-associated protein-like 1) is a protein encoded by the EML1 gene in humans. It's strongly associated with Usher syndrome type 1A, a genetic disorder characterized by congenital deafness, retinitis pigmentosa, and vestibular dysfunction. Usher syndromes are categorized into types I, II, and III, with type I being the most severe. EML1 plays a role in the development of the brain, auditory, and visual systems, and its dysfunction can lead to these severe symptoms. Two transcript variants encoding different isoforms have been identified for this gene.
EML1 is also known as BH, ELP79, EMAP, EMAP-1, EMAPL.
