抄録
The ubiquitously expressed and brain-specific human intersectin (ITSN) isoforms are scaffold proteins probably involved in general endocytosis and synaptic vesicle recycling, respectively. Here, analysis of 21q22.1→q22.2 genomic sequence revealed that ITSN consists of 41 exons spanning ~ 250 kb and maps between GART and D21S325. The probable function of the ITSN isoforms and mapping position of ITSN suggest that disproportionate expression of this gene may be implicated in the phenotypic characteristics of Down syndrome.
本文言語 | English |
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ページ(範囲) | 218-220 |
ページ数 | 3 |
ジャーナル | Cytogenetics and Cell Genetics |
巻 | 83 |
号 | 3-4 |
出版ステータス | Published - 1998 |
外部発表 | はい |
ASJC Scopus subject areas
- 遺伝学
- 細胞生物学