Kw 0431
cv_term_accession
KW-0431
canonical
uniprot_keyword
KW-0431
canonical
name
Leigh syndrome
uniprot
definition
Protein which, if defective, causes Leigh syndrome, a neurodegenerative disorder characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. The syndrome is caused by a variety of defects of enzymes involved in energy metabolism, including cytochrome c oxidase (COX), the mitochondrial encoded ATP6 subunit of ATP synthase, and the X-linked E1-alpha subunit of pyruvate dehydrogenase.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords