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Título : Genomic organization, chromosomal localization, alternative splicing,and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes
Autor : Lazo, Pedro A.; Nadal, Marga; Ferrer, Milagros; Area, Estela; Hernández-Torres, Javier; Nabokina, S. M.; Mollinedo, Faustino; Estivill, Xavier
Palabras clave : SNAP23
Fecha de publicación : 6-mar-2001
Editor: Springer
Citación : Human Genetics 108(3): 211–215 (2001)
Resumen: Synaptosome-associated protein-23 (SNAP23) is a component of the cellular mechanism required for specific membrane fusion and targetting of intracellular vesicles. We have cloned the full-length human cDNA and the SNAP23 gene. The SNAP23 gene has eight exons, with the initiation codon located in exon 2, and maps to the human chromosome 15q21–22 region. The human SNAP23 gene can generate two types of message, the full-length message (SNAP23A) and a shorter message (SNAP23B). The latter is the result of alternative splicing where exon 5 is joined to exon 7 and the skipping of exon 6; it thus lacks a region that is required for non-specific binding to plasma membranes. The two isoforms, expressed as fusion proteins with glutathione-S-transferase, interact in vitro with human syntaxin 6, thus retaining the specific protein interaction required for membrane fusion. Alterations in the SNAP23 gene might be involved in neurological and other diseases with defects in vesicle-membrane fusion processes that map to 15q15–21.
Descripción : 5 pages, 2 figures.-- PMID: 11354632 [PubMed].-- Related research antibodies (Cytoskeleton antibodies, anti-SNAP23, anti-syntaxin 6 and anti-glutathione-S-transferase) available at http://www.antibodies-online.com/
Versión del editor: http://dx.doi.org/10.1007/s004390100480
URI : http://hdl.handle.net/10261/7016
DOI: 10.1007/s004390100480
ISSN: 0340-6717 (Print)
1432-1203 (Online)
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