Gene: [16q243/PGN] paraplegin (mitochondrial metalloprotease?); spastic paraplegia 7;
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PAT |
Hereditary spastic paraplegia (SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. Analysis of muscle biopsies from two patients carrying paraplegin mutations showed typical signs of mitochondrial oxidative phospahorylation defects, thus suggesting a mechanism for neurodegeneration in SPG-type disorders (Casari-1998)." |
|
EVO |
Paraplegin is highly homologous to the yeast mitochondrial ATPases, AFG3, RCA1, and YME1, which have both proteolytic and chaperon-like activities at the inner mitochondrial membrane (Casari-1998)." |
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REF |
ABR,LOC,PAT,COD,SEQ,MUT "Casari G &: Cell, 93, N6, 973-983, 1998 |
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KEY |
neu, mito, pep |
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CLA |
coding, basic |
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LOC |
16 q24.3 |
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MIM |
MIM: 602783 |
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EZN |
ENZYME: 3.4.24.? |
