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GENATLAS PHENOTYPE

last update : 08-10-2013

Symbol	SPG13
Location	2q33.1
HGNC id	11228
Name	spastic paraplegia 13
Corresponding gene	HSPD1
Main clinical features	pure, progressive spasticity and weakness of the lower limbs, with increased reflexes in the upper limbs adolescent and adult onset
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	heat shock 60 kD protein 1 (chaperonin 10)

Remark(s)

mutation leading to reduced chaperonin activity that cause reduced folding and premature degradation of a subset of proteins, resulting among other things in decreased activities of certain enzymes