Aliases for EML1 Gene
External Ids for EML1 Gene
Previous HGNC Symbols for EML1 Gene
Previous GeneCards Identifiers for EML1 Gene
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]
GeneCards Summary for EML1 Gene
EML1 (Echinoderm Microtubule Associated Protein Like 1) is a Protein Coding gene. Diseases associated with EML1 include Band Heterotopia and Subcortical Band Heterotopia. GO annotations related to this gene include calcium ion binding and tubulin binding. An important paralog of this gene is EML2.
UniProtKB/Swiss-Prot for EML1 Gene
Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se.