Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene
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- 作者：Chadwick ; Brian P. ; Gill ; Sandra ; Leyne ; Maire ; Mull ; James ; Liebert ; Christopher B. ; Robbins ; Christiane M. ; et. al.
- 关键词：9q31 ; Ashkenazi Jewish ; Neuropathy ; Peripheral nervous system ; Recessive ; aa ; amino acid(s) ; bp ; base pair(s) ; C9ORF5 ; chromosome 9 open reading frame 5 ; cAMP ; cyclic AMP ; cDNA ; DNA complementary to RNA ; EST ; expressed sequence tag ; FD ; familial dysautono
- 刊名：Gene
- 出版年：1999
- 出版时间：November 15, 1999
- 年：1999
- 卷：240
- 期：1
- 页码：67-73
- 全文大小：357 K
文摘
A novel human transcript CG-2 (C9ORF5), was isolated from the familial dysautonomia candidate region on 9q31 using a combination of cDNA selection and exon trapping. CG-2 was detected as a relatively abundant 8kb transcript in all adult and fetal tissues with the exception of adult thymus. Genomic analysis of CG-2 identified 18 exons that span more than 110kb. The gene encodes a 911-amino-acid protein with a predicted molecular weight of 101kDa and a hypothetical pI of 9.03. Sequence analysis of CG-2 indicates that it is likely to encode a transmembrane protein. Here, we assess CG-2 as a candidate for familial dysautonomia.