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OTOR

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(Redirected from OTOR (gene))
OTOR
Identifiers
AliasesOTOR, FDP, MIAL1, otoraplin
External IDsOMIM: 606067; MGI: 1888678; HomoloGene: 10600; GeneCards: OTOR; OMA:OTOR - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020157

NM_020595

RefSeq (protein)

NP_064542

NP_065620

Location (UCSC)Chr 20: 16.75 – 16.77 MbChr 2: 142.92 – 142.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Otoraplin is a protein that in humans is encoded by the OTOR gene.[5][6]

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.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000125879Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027416Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. CiteSeerX 10.1.1.327.2446. doi:10.1006/geno.2000.6224. PMID 10873378.
  6. ^ a b "Entrez Gene: OTOR otoraplin".

Further reading

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