Gene: [16q243/PGN] paraplegin (mitochondrial metalloprotease?); spastic paraplegia 7;


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)."

REF

ABR,LOC,PAT,COD,SEQ,MUT "Casari G &: Cell, 93, N6, 973-983, 1998

KEY

neu, mito, pep

CLA

coding, basic

LOC

16 q24.3

MIM

MIM: 602783

EZN

ENZYME: 3.4.24.?

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