Document Detail

LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
MedLine Citation:
PMID:  14706454     Owner:  NLM     Status:  MEDLINE    
The leucine zipper-, EF-hand-containing transmembrane protein 1 (LETM1) has recently been cloned in an attempt to identify genes deleted in Wolf-Hirschhorn syndrome (WHS), a microdeletion syndrome characterized by severe growth and mental retardation, hypotonia, seizures, and typical facial dysmorphic features. LETM1 is deleted in almost all patients with the full phenotype and has recently been suggested as an excellent candidate gene for the seizures in WHS patients. We have shown that LETM1 is evolutionarily conserved throughout the eukaryotic kingdom and exhibits homology to MDM38, a putative yeast protein involved in mitochondrial morphology. Using LETM1-EGFP fusion constructs and an anti-rat LetM1 polyclonal antibody we have demonstrated that LETM1 is located in the mitochondria. The present study presents information about a possible function for LETM1 and suggests that at least some (neuromuscular) features of WHS may be caused by mitochondrial dysfunction.
Stephanie Schlickum; Abhay Moghekar; Jeremy C Simpson; Cordula Steglich; Richard J O'Brien; Andreas Winterpacht; Sabine U Endele
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  83     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  2004 Feb 
Date Detail:
Created Date:  2004-01-06     Completed Date:  2004-10-06     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  254-61     Citation Subset:  IM    
Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Schwabachanlage 10, D-91054 Erlangen, Germany.
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MeSH Terms
Abnormalities, Multiple / genetics*
Calcium-Binding Proteins / analysis,  genetics*
Craniofacial Abnormalities / genetics
Databases, Protein
Evolution, Molecular*
Gene Deletion*
Heart Defects, Congenital / genetics
Membrane Proteins / analysis,  genetics*
Mental Retardation / genetics*
Mitochondrial Diseases / genetics
Mitochondrial Proteins / analysis*,  genetics*
Seizures / genetics
Sequence Homology, Amino Acid
Reg. No./Substance:
0/Calcium-Binding Proteins; 0/LETM1 protein, human; 0/Membrane Proteins; 0/Mitochondrial Proteins

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