Literature summary for 1.14.14.29 extracted from

Tsaousidou, M.K.; Ouahchi, K.; Warner, T.T.; Yang, Y.; Simpson, M.A.; Laing, N.G.; Wilkinson, P.A.; Madrid, R.E.; Patel, H.; Hentati, F.; Patton, M.A.; Hentati, A.; Lamont, P.J.; Siddique, T.; Crosby, A.H.
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration (2008), Am. J. Hum. Genet., 82, 510-515.

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Application

Application	Comment	Organism
medicine	identification of mutations in CYP7B1 associated with hereditary spastic paraplegias provide direct evidence for abnormalities in cholesterol metabolism in the pathogenesis of motor-neuron degeneration	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
CYP7B1	-	Homo sapiens

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Release 2023.1 (January 2023)