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Gene Review

KPTN  -  kaptin (actin binding protein)

Homo sapiens

Synonyms: 2E4, Actin-associated protein 2E4, Kaptin, MRT41
 
 
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Disease relevance of KPTN

  • 4. A combination of FISH, radiation hybrid mapping and YAC screening localized KPTN between markers D19S412 and NIB1805, making this gene an excellent functional and positional candidate for DFNA4, a form of autosomal dominant non-syndromic hearing loss [1].
 

High impact information on KPTN

  • Using double label immunofluorescence, we now show that KPTN extends beyond the barbed ends of actin filaments at the tips of stereocilia, and using cloned human cDNA, we mapped KPTN to chromosome 19q13 [1].
  • To screen KPTN for deafness-causing mutations, we first determined its genomic structure and then completed a mutational analysis by direct sequencing and SSCP in affected family members [1].
  • Although no deafness-causing mutations were identified in the coding region, KPTN remains an excellent candidate gene for hearing loss; by synteny, its murine orthologue also remains a candidate gene for the Nijmegan waltzer (nv) mouse mutant, which has vestibular defects and a variable sensorineural hearing loss [1].

References

  1. 2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4. Bearer, E.L., Chen, A.F., Chen, A.H., Li, Z., Mark, H.F., Smith, R.J., Jackson, C.L. Ann. Hum. Genet. (2000) [Pubmed]
 
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