Publication
Title
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (**MBOAT1**) in a patient with a novel brachydactylysyndactyly syndrome
Author
Abstract
Here, we report a patient with a novel brachydactylysyndactyly syndrome and a de novo translocation 46,XY,t(4;6)(q12;p23). We mapped the breakpoint and identified genes in the breakpoint region. One of the genes on chromosome 6, the membrane-associated O-acetyl transferase gene 1 (MBOAT1), was disrupted by the breakpoint. This gene consists of 13 exons and encodes a protein of 495 amino acids. MBOAT1 is predicted to be a transmembrane protein and belongs to the superfamily of membrane-bound O-acyltransferases. These proteins transfer organic compounds, usually fatty acids, onto hydroxyl groups of membrane-embedded targets. Identification of the transferred acyl group and the target may reveal the signaling pathways altered in this novel brachydactylysyndactyly syndrome.
Language
Dutch
Source (journal)
European journal of human genetics / European Society of Human Genetics. - Leiden
Publication
Leiden : 2007
ISSN
1018-4813
Volume/pages
15:7(2007), p. 743-751
ISI
000247436300006
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.06.2012
Last edited 18.09.2017