Identification and characterization of YME1L1, a novel paraplegin- related gene

Massimiliano Coppola, Alessandro Pizzigoni, Sandro Banfi, Maria Teresa Bassi, Giorgio Casari, Barbara Incerti

Research output: Contribution to journalArticle

Abstract

A gene responsible for an autosomal recessive form of hereditary spastic paraplegia (SPG7) was recently identified. This gene encodes paraplegin, a mitochondrial protein highly homologous to the yeast mitochondrial AAA proteases 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 proteases and in particular to yeast Yme1p. Expression and immunofluorescence studies revealed that YME1L1 and paraplegin share a similar expression pattern and the same subcellular localization in the mitochondrial compartment. YME1L1 may represent a candidate gene for other forms of hereditary spastic paraplegia and possibly for other neurodegenerative disorders. (C) 2000 Academic Press.

Original languageEnglish
Pages (from-to)48-54
Number of pages7
JournalGenomics
Volume66
Issue number1
DOIs
Publication statusPublished - May 15 2000

ASJC Scopus subject areas

  • Genetics

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