EML1

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Identifiers
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External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
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UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
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Wikidata
View/Edit Human

Echinoderm microtubule-associated protein-like 1 is a protein that in humans is encoded by the 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 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.

Further reading

• Kaplan J, Gerber S, Bonneau D, et al. (1993). "A gene for Usher syndrome type I (USH1A) maps to chromosome 14q". Genomics. 14 (4): 979–87. doi:10.1016/S0888-7543(05)80120-X. PMID 1478676.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Schaefer GB, Bodensteiner JB, Thompson JN, et al. (1999). "Volumetric neuroimaging in Usher syndrome: evidence of global involvement". Am. J. Med. Genet. 79 (1): 1–4. doi:10.1002/(SICI)1096-8628(19980827)79:1<1::AID-AJMG1>3.0.CO;2-T. PMID 9738858.
• Ly CD, Roche KW, Lee HK, Wenthold RJ (2002). "Identification of rat EMAP, a delta-glutamate receptor binding protein". Biochem. Biophys. Res. Commun. 291 (1): 85–90. doi:10.1006/bbrc.2002.6413. PMID 11829466.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.