Biology:EML1
 Generic protein structure example |
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]
References
- ↑ "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. doi:10.1006/geno.1997.4779. PMID 9226380.
- ↑ "Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2)". Gene 237 (2): 343–9. Nov 1999. doi:10.1016/S0378-1119(99)00335-2. PMID 10521658.
- ↑ 3.0 3.1 "Entrez Gene: EML1 echinoderm microtubule associated protein like 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2009.
Further reading
- "A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.". Genomics 14 (4): 979–87. 1993. doi:10.1016/S0888-7543(05)80120-X. PMID 1478676.
- "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
- "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
- "Volumetric neuroimaging in Usher syndrome: evidence of global involvement". Am. J. Med. Genet. 79 (1): 1–4. 1999. doi:10.1002/(SICI)1096-8628(19980827)79:1<1::AID-AJMG1>3.0.CO;2-T. PMID 9738858.
- "Identification of rat EMAP, a delta-glutamate receptor binding protein". Biochem. Biophys. Res. Commun. 291 (1): 85–90. 2002. doi:10.1006/bbrc.2002.6413. PMID 11829466. https://zenodo.org/record/1229546.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
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