echinoderm microtubule associated protein like 1

Symbol

EML1 (may also be known as: None)

Organism

Human

Description

Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Orthologs

SymbolSpecies
eml1 Danio rerio
Eml1 Mus musculus
Eml1 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0005737 cytoplasm cellular_component
GO:0005856 cytoskeleton cellular_component
GO:0005874 microtubule cellular_component
GO:0005875 microtubule associated complex cellular_component
GO:0005509 calcium ion binding molecular_function
GO:0005515 protein binding molecular_function