Otoraplin is a protein that in humans is encoded by the OTORgene.[1][2]
The protein encoded by this gene is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. This gene is a member of the melanoma-inhibiting activity gene family. In addition, alternate polyA sites exist for this gene.[2]
References
↑Robertson NG, Heller S, Lin JS, Resendes BL, Weremowicz S, Denis CS, Bell AM, Hudspeth AJ, Morton CC (Sep 2000). "A novel conserved cochlear gene, OTOR: identification, expression analysis, and chromosomal mapping". Genomics. 66 (3): 242–8. doi:10.1006/geno.2000.6224. PMID10873378.
Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID7829101.
Cohen-Salmon M, Frenz D, Liu W, et al. (2001). "Fdp, a new fibrocyte-derived protein related to MIA/CD-RAP, has an in vitro effect on the early differentiation of the inner ear mesenchyme". J. Biol. Chem. 275 (51): 40036–41. doi:10.1074/jbc.M002876200. PMID10998416.
Rendtorff ND, Frödin M, Attié-Bitach T, et al. (2001). "Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation". Genomics. 71 (1): 40–52. doi:10.1006/geno.2000.6409. PMID11161796.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID11780052.