자가 열성 청각장애 타입 36 단백질 또는 엑토플라즘 특화 단백질 로도 알려진 에스핀 은 인간에서 ESPN 유전자 에 의해 암호화된 단백질 이다.[5] 에스핀은 마이크로필라멘트 결합 단백질이다.
함수 에스핀은 다기능성 액틴 번들링 단백질이다. 다양한 기계감각 세포와 화학감각 세포에서 감각전도를 매개하는 액틴 필라멘트가 풍부한 마이크로빌루스형 전문화의 조직, 치수, 역학, 신호능력을 조절하는 데 큰 역할을 한다.[5]
임상적 유의성 이 유전자의 돌연변이는 자가 열성 신경감각 청각장애, 전정 관여가 없는 자가 지배적 센서리뇨 청각장애, DFNB36 과 관련이 있다.[5]
참조 추가 읽기 Naz S, Griffith AJ, Riazuddin S, et al. (2004). "Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction" . J. Med. Genet . 41 (8): 591–5. doi :10.1136/jmg.2004.018523 . PMC 1735855 PMID 15286153 . Boulouiz R, Li Y, Soualhine H, et al. (2008). "A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family". Am. J. Med. Genet. A . 146A (23): 3086–9. doi :10.1002/ajmg.a.32525 . PMID 18973245 . S2CID 33443367 . Cosetti M, Culang D, Kotla S, et al. (2008). "Unique transgenic animal model for hereditary hearing loss" . Ann. Otol. Rhinol. Laryngol . 117 (11): 827–33. doi :10.1177/000348940811701106 . PMC 3409696 PMID 19102128 . Hosgood HD, Zhang L, Shen M, et al. (2009). "Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity" . Occup Environ Med . 66 (12): 848–53. doi :10.1136/oem.2008.044024 . PMC 2928224 PMID 19773279 . Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Donaudy F, Zheng L, Ficarella R, et al. (2006). "Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation" . J. Med. Genet . 43 (2): 157–61. doi :10.1136/jmg.2005.032086 . PMC 2564636 PMID 15930085 . Bartles JR, Zheng L, Li A, et al. (1998). "Small espin: a third actin-bundling protein and potential forked protein ortholog in brush border microvilli" . J. Cell Biol . 143 (1): 107–19. doi :10.1083/jcb.143.1.107 . PMC 2132824 PMID 9763424 . Sekerková G, Loomis PA, Changyaleket B, et al. (2003). "Novel espin actin-bundling proteins are localized to Purkinje cell dendritic spines and bind the Src homology 3 adapter protein insulin receptor substrate p53" . J. Neurosci . 23 (4): 1310–9. doi :10.1523/JNEUROSCI.23-04-01310.2003 . PMC 2854510 PMID 12598619 . Bartles JR, Wierda A, Zheng L (1996). "Identification and characterization of espin, an actin-binding protein localized to the F-actin-rich junctional plaques of Sertoli cell ectoplasmic specializations". J. Cell Sci . 109 (6): 1229–39. doi :10.1242/jcs.109.6.1229 . PMID 8799813 . Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs" . Genome Res . 11 (3): 422–35. doi :10.1101/gr.GR1547R . PMC 311072 PMID 11230166 . Loomis PA, Kelly AE, Zheng L, et al. (2006). "Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells" . J. Cell Sci . 119 (Pt 8): 1655–65. doi :10.1242/jcs.02869 . PMC 2854011 PMID 16569662 . Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1" . Nature . 441 (7091): 315–21. Bibcode :2006Natur.441..315G . doi :10.1038/nature04727 PMID 16710414 . Zheng L, Sekerková G, Vranich K, et al. (2000). "The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins" . Cell . 102 (3): 377–85. doi :10.1016/S0092-8674(00)00042-8 . PMC 2850054 PMID 10975527 . Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression" . Proc. Natl. Acad. Sci. U.S.A . 101 (44): 15724–9. Bibcode :2004PNAS..10115724W . doi :10.1073/pnas.0404089101 PMC 524842 PMID 15498874 .
외부 링크 이 기사는 공공영역 에 있는 미국 국립 의학 도서관 의 텍스트를 통합하고 있다.
