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

Brian P. Chadwick, Sandra Gill, Maire Leyne, James Mull, Christopher B. Liebert, Christiane M. Robbins, Heather W. Pinkett, Izabela Makalowska, Channa Maayan, Anat Blumenfeld, Felicia B. Axelrod, Mike Brownstein, Susan A. Slaugenhaupt*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

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 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 encodes a 911-amino-acid protein with a predicted molecular weight of 101 kDa 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. (C) 1999 Published by Elsevier Science B.V. All rights reserved.

Original languageEnglish (US)
Pages (from-to)67-73
Number of pages7
JournalGene
Volume240
Issue number1
DOIs
StatePublished - Nov 15 1999

Keywords

  • 9q31
  • Ashkenazi Jewish
  • Neuropathy
  • Peripheral nervous system
  • Recessive

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics

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