EML1 explained

Echinoderm microtubule-associated protein-like 1 is a protein that in humans is encoded by the EML1 gene.^{[1] [2] [3]}

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.^[3]

Further reading

• Kaplan J, Gerber S, Bonneau D . A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. . Genomics . 14 . 4 . 979–87 . 1993 . 1478676 . 10.1016/S0888-7543(05)80120-X . etal.
• Andersson B, Wentland MA, Ricafrente JY . A "double adaptor" method for improved shotgun library construction. . Anal. Biochem. . 236 . 1 . 107–13 . 1996 . 8619474 . 10.1006/abio.1996.0138 . etal.
• Yu W, Andersson B, Worley KC . Large-Scale Concatenation cDNA Sequencing . Genome Res. . 7 . 4 . 353–8 . 1997 . 9110174 . 10.1101/gr.7.4.353. 139146 . etal.
• Schaefer GB, Bodensteiner JB, Thompson JN . Volumetric neuroimaging in Usher syndrome: evidence of global involvement . Am. J. Med. Genet. . 79 . 1 . 1–4 . 1999 . 9738858 . 10.1002/(SICI)1096-8628(19980827)79:1<1::AID-AJMG1>3.0.CO;2-T . etal.
• Ly CD, Roche KW, Lee HK, Wenthold RJ . Identification of rat EMAP, a delta-glutamate receptor binding protein . Biochem. Biophys. Res. Commun. . 291 . 1 . 85–90 . 2002 . 11829466 . 10.1006/bbrc.2002.6413 .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 . etal.

Notes and References

1. Eudy JD, Ma-Edmonds M, Yao SF, Talmadge CB, Kelley PM, Weston MD, Kimberling WJ, Sumegi J . Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32 . Genomics . 43 . 1 . 104–6 . Sep 1997 . 9226380 . 10.1006/geno.1997.4779 .
2. Lepley DM, Palange JM, Suprenant KA . Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2) . Gene . 237 . 2 . 343–9 . Nov 1999 . 10521658 . 10.1016/S0378-1119(99)00335-2 .
3. Web site: Entrez Gene: EML1 echinoderm microtubule associated protein like 1.