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