Literature DB >> 9737786

Identification, localization and characterization of the human gamma-synuclein gene.

C Lavedan1, E Leroy, A Dehejia, S Buchholtz, A Dutra, R L Nussbaum, M H Polymeropoulos.   

Abstract

We have identified and characterized a new member of the human synuclein gene family, gamma-synuclein (SNCG). This gene is composed of five exons, which encode a 127 amino acid protein that is highly homologous to alpha-synuclein, which is mutated in some Parkinson's disease families, and to beta-synuclein. The gamma-synuclein gene is localized to chromosome 10q23 and is principally expressed in the brain, particularly in the substantia nigra. We have determined its genomic sequence, and established conditions for sequence analysis of each of the exons. The gamma-synuclein gene, also known as BCSG1, was recently found to be overexpressed in advanced infiltrating carcinoma of the breast. Our survey of the EST database indicated that it might also be overexpressed in an ovarian tumor.

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Year:  1998        PMID: 9737786     DOI: 10.1007/s004390050792

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  54 in total

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