ELP79 antibody, EMAP antibody, EMAPL antibody, HuEMAP antibody, EML1 antibody, MGC108311 antibody, wu:fj01a06 antibody, zgc:153105 antibody, 1110008N23Rik antibody, A930030P13Rik antibody, AA171013 antibody, AI847476 antibody, AI853955 antibody, echinoderm microtubule associated protein like 1 antibody, echinoderm microtubule associated protein like 1 S homeolog antibody, EML1 antibody, eml1.S antibody, eml1 antibody, Eml1 antibody
Background
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]