A gene responsible for an autosomal recessive form of hereditary spastic pa
raplegia (SPG7) was recently identified. This gene encodes paraplegin, a mi
tochondrial protein highly homologous to the yeast mitochondrial AAA protea
ses Afg3p, Rca1p, and Yme1p, 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 gene,
YME1L1 (YME1L1-like1, HGMW-approved symbol). This gene encodes a predicted
protein of 716 amino acids highly similar to all mitochondrial AAA proteas
es and in particular to yeast Yme1p. Expression and immunofluorescence stud
ies revealed that YME1L1 and paraplegin share a similar expression pattern
and the same subcellular localization in the mitochondrial compartment. YME
1L1 may represent a candidate gene for other forms of hereditary spastic pa
raplegia and possibly for other neurodegenerative disorders. (C) 2000 Acade
mic Press.