Zellweger syndrome
cv_term_accession
KW-0861
canonical
uniprot_keyword
KW-0861
canonical
name
Zellweger syndrome
uniprot
synonym
CHR syndrome
uniprot
synonym
Cerebro-hepato-renal syndrome
uniprot
synonym
Cerebrohepatorenal syndrome
uniprot
synonym
ZWS
uniprot
definition
Protein which, if defective, causes Zellweger syndrome, a fatal peroxisome biogenesis disorder associated with severe abnormalities in the brain, liver and kidney and death soon after birth. This disease is characterized by the presence of empty peroxisomes in the cells due to impaired transport of peroxisomal proteins into the peroxisomes.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords