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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1999-8-30
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pubmed:databankReference |
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pubmed:abstractText |
We recently identified a gene responsible for an autosomal recessive form of hereditary spastic paraplegia (HSP). This gene encodes paraplegin, a mitochondrial protein highly homologous to the yeast mitochondrial ATPases Afg3p and Rcalp, which have both proteolytic and chaperone-like activities at the inner mitochondrial membrane. By screening the Expressed Sequence Tag database, we identified and characterized a novel human cDNA, ATPase family gene 3-like 2 (AFG3L2, Human Gene Nomenclature Committee-approved symbol), which is closely related to paraplegin. This cDNA encodes a 797-amino-acid predicted protein highly similar to paraplegin as well as to yeast Afg3p and Rca1p. Immunofluorescence studies revealed that AFG3L2 and paraplegin share a similar expression pattern and the same subcellular localization, the mitochondrial compartment. We subsequently mapped AFG3L2 to chromosome 18p11 by radiation hybrid analysis. AFG3L2 may represent a candidate gene for other forms of HSPs and possibly for other neurodegenerative disorders.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0888-7543
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 1999 Academic Press.
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
51-8
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:10395799-ATP-Dependent Proteases,
pubmed-meshheading:10395799-Adenosine Triphosphatases,
pubmed-meshheading:10395799-Amino Acid Sequence,
pubmed-meshheading:10395799-Animals,
pubmed-meshheading:10395799-Base Sequence,
pubmed-meshheading:10395799-COS Cells,
pubmed-meshheading:10395799-Chromosome Mapping,
pubmed-meshheading:10395799-Chromosomes, Human, Pair 18,
pubmed-meshheading:10395799-DNA, Complementary,
pubmed-meshheading:10395799-Fetus,
pubmed-meshheading:10395799-Fluorescent Antibody Technique,
pubmed-meshheading:10395799-Gene Expression,
pubmed-meshheading:10395799-Gene Expression Regulation, Developmental,
pubmed-meshheading:10395799-Genes,
pubmed-meshheading:10395799-Humans,
pubmed-meshheading:10395799-Metalloendopeptidases,
pubmed-meshheading:10395799-Mitochondria,
pubmed-meshheading:10395799-Molecular Sequence Data,
pubmed-meshheading:10395799-RNA,
pubmed-meshheading:10395799-Sequence Alignment,
pubmed-meshheading:10395799-Sequence Analysis, DNA,
pubmed-meshheading:10395799-Sequence Homology, Amino Acid,
pubmed-meshheading:10395799-Tissue Distribution
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pubmed:year |
1999
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pubmed:articleTitle |
Identification and characterization of AFG3L2, a novel paraplegin-related gene.
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pubmed:affiliation |
Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Milan, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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