EML1 Products

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]

Bioinformatics

Entrez	2009 Human
Uniprot	AAH33043.1 Human NM_004434 Human NP_001008707 Human NP_001008707.1 Human O00423 Human
Product By Gene ID	2009
Alternate Names	echinoderm microtubule associated protein like 1 ELP79 EMAP1 EMAP-1 EMAPechinoderm microtubule-associated protein-like 1 EMAPL1 EMAPLhuEMAP-1 FLJ45033 HuEMAP HuEMAP-1