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Otoferlina
Identificadores
Símbolos	OTOF; AUNB1; DFNB6; DFNB9; FER1L2; NSRD9
IDs externos	OMIM: 603681 MGI: 1891247 HomoloGene: 12892 GeneCards: OTOF Gene
Ontologia do gene
Função molecular	•molecular_function; •calcium ion binding;
Componente celular	•endoplasmic reticulum membrane; •cytosol; •integral to membrane; •basolateral plasma membrane; •cell junction; •synaptic vesicle membrane;
Processo biológico	•cellular membrane fusion; •sensory perception of sound; •synaptic vesicle exocytosis;
	Sources: Amigo / QuickGO
Padrões de expressão do ARN
	Mais dados de expressão
Ortólogos
	v; d; e;

Otoferlina, também denominado OTOF, é uma proteína que em humanos é codificada pelo gene humano OTOF.^[1]^[2]^[3]

Mutações neste gene são causa de surdez neurosensorial não-sindrómica recessiva, DFNB9. A forma curta da proteína codificada possui 3 domínios C2, um único domínio transmembranar carboxi-terminal encontrado também no factor de espermatogénese de C. elegans, FER-1, e também na disferlina humana, enquanto que a forma longa possui 6 domínios C2.

A homologia sugere que esta proteína pode estar envolvida na fusão membranar de vesículas. Várias variantes de transcritos foram encontradas para este gene.

Leitura de apoio

Fukushima K, Ramesh A, Srisailapathy CR; et al. (1996). «An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.». Genome Res. 5 (3): 305–8. PMID 8593615. doi:10.1101/gr.5.3.305
Yasunaga S, Petit C (2000). «Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23.». Genomics. 66 (1): 110–2. PMID 10843812. doi:10.1006/geno.2000.6185
Adato A, Raskin L, Petit C, Bonne-Tamir B (2000). «Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.». Eur. J. Hum. Genet. 8 (6): 437–42. PMID 10878664. doi:10.1038/sj.ejhg.5200489
Yasunaga S, Grati M, Chardenoux S; et al. (2000). «OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.». Am. J. Hum. Genet. 67 (3): 591–600. PMC 1287519. PMID 10903124. doi:10.1086/303049
Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA; et al. (2002). «Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.». J. Med. Genet. 39 (7): 502–6. PMC 1735186. PMID 12114484. doi:10.1136/jmg.39.7.502
Mirghomizadeh F, Pfister M, Apaydin F; et al. (2002). «Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.». Neurobiol. Dis. 10 (2): 157–64. PMID 12127154. doi:10.1006/nbdi.2002.0488
Mirghomizadeh F, Pfister M, Blin N, Pusch CM (2003). «Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene.». Int. J. Mol. Med. 11 (1): 63–4. PMID 12469219
Varga R, Kelley PM, Keats BJ; et al. (2003). «Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.». J. Med. Genet. 40 (1): 45–50. PMC 1735255. PMID 12525542. doi:10.1136/jmg.40.1.45
Piechotta K, Garbarini N, England R, Delpire E (2004). «Characterization of the interaction of the stress kinase SPAK with the Na+-K+-2Cl- cotransporter in the nervous system: evidence for a scaffolding role of the kinase.». J. Biol. Chem. 278 (52): 52848–56. PMID 14563843. doi:10.1074/jbc.M309436200
Varga R, Avenarius MR, Kelley PM; et al. (2006). «OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.». J. Med. Genet. 43 (7): 576–81. PMC 2593030. PMID 16371502. doi:10.1136/jmg.2005.038612
Roux I, Safieddine S, Nouvian R; et al. (2006). «Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.». Cell. 127 (2): 277–89. PMID 17055430. doi:10.1016/j.cell.2006.08.040

Referências

↑ Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (abril de 1999). «A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness». Nat Genet. 21 (4): 363–9. PMID 10192385. doi:10.1038/7693
↑ Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedin S, Smith J, Cruz Tapia M, Cavalle L, Gelvez N, Primignani P, Gomez-Rosas E, Martin M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I (maio de 2008). «A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy». Hum Mutat. 29 (6): 823–31. PMID 18381613. doi:10.1002/humu.20708
↑ «Entrez Gene: OTOF otoferlin»

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[pmid10192385-1] Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (abril de 1999). «A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness». Nat Genet. 21 (4): 363–9. PMID 10192385. doi:10.1038/7693

[pmid18381613-2] Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedin S, Smith J, Cruz Tapia M, Cavalle L, Gelvez N, Primignani P, Gomez-Rosas E, Martin M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I (maio de 2008). «A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy». Hum Mutat. 29 (6): 823–31. PMID 18381613. doi:10.1002/humu.20708

[entrez-3] «Entrez Gene: OTOF otoferlin»

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OTOF

Leitura de apoio

Referências

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