Identification and characterization of AFG3L2, a novel paraplegin-related gene

Genomics. 1999 Jul 1;59(1):51-8. doi: 10.1006/geno.1999.5818.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Dependent Proteases
  • ATPases Associated with Diverse Cellular Activities
  • Adenosine Triphosphatases / genetics*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • COS Cells
  • Chromosome Mapping
  • Chromosomes, Human, Pair 18 / genetics
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Fetus / metabolism
  • Fluorescent Antibody Technique
  • Gene Expression
  • Gene Expression Regulation, Developmental
  • Genes / genetics*
  • Humans
  • Metalloendopeptidases / genetics*
  • Mitochondria / chemistry
  • Molecular Sequence Data
  • RNA / genetics
  • RNA / metabolism
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Tissue Distribution


  • DNA, Complementary
  • RNA
  • ATP-Dependent Proteases
  • AFG3L2 protein, human
  • Metalloendopeptidases
  • SPG7 protein, human
  • Adenosine Triphosphatases
  • ATPases Associated with Diverse Cellular Activities

Associated data

  • GENBANK/Y18314