TY - JOUR
T1 - Identification and characterization of YME1L1, a novel paraplegin- related gene
AU - Coppola, Massimiliano
AU - Pizzigoni, Alessandro
AU - Banfi, Sandro
AU - Bassi, Maria Teresa
AU - Casari, Giorgio
AU - Incerti, Barbara
PY - 2000/5/15
Y1 - 2000/5/15
N2 - 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.
AB - 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.
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U2 - 10.1006/geno.2000.6136
DO - 10.1006/geno.2000.6136
M3 - Article
C2 - 10843804
AN - SCOPUS:0034657997
VL - 66
SP - 48
EP - 54
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 1
ER -