A cataract-causing connexin 50 mutant is mislocalized to the ER due to loss of the fourth transmembrane domain and cytoplasmic domain()

Mutations in the eye lens gap junction protein connexin 50 cause cataract. Earlier we identified a frameshift mutant of connexin 50 (c.670insA; p.Thr203AsnfsX47) in a family with autosomal recessive cataract. The mutant protein is smaller and contains 46 aberrant amino acids at the C-terminus after...

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Detalles Bibliográficos
Autores principales: Somaraju Chalasani, Madhavi Latha, Muppirala, Madhavi, G. Ponnam, Surya Prakash, Kannabiran, Chitra, Swarup, Ghanshyam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668514/
https://www.ncbi.nlm.nih.gov/pubmed/23772370
http://dx.doi.org/10.1016/j.fob.2012.11.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668514/
https://www.ncbi.nlm.nih.gov/pubmed/23772370
http://dx.doi.org/10.1016/j.fob.2012.11.005

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