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Recommended positive controls: H1299, NIH-3T3.
Predicted reactivity: Mouse (100%), Rat (100%).
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
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 categorized 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.
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仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: echinoderm microtubule associated protein-like protein 1; Echinoderm microtubule-associated protein-like 1; EMAP-1; huEMAP-1
基因别名: 1110008N23Rik; A930030P13Rik; AA171013; AI847476; AI853955; ELP79; EMAP; EMAP1; EMAPL; EMAPL1; EML1; HuEMAP
UniProt ID: (Human) O00423, (Mouse) Q05BC3, (Rat) Q4V8C3
Entrez Gene ID: (Human) 2009, (Mouse) 68519, (Rat) 362783