Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene

A novel human transcript CG-2 (C9ORF5), was isolated from the familial dysa utonomia candidate region on 9q31 using a combination of cDNA selection and exon trapping. CG-2 was detected as a relatively abundant 8 kb 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 110 kb, The gene e ncodes a 911-amino-acid protein with a predicted molecular weight of 101 kD a and a hypothetical pI of 9.03. Sequence analysis of CG-2 indicates that i t is likely to encode a transmembrane protein. Here, we assess CG-2 as a ca ndidate for familial dysautonomia, (C) 1999 Published by Elsevier Science B .V. All rights reserved.