Kw 0307
cv_term_accession
KW-0307
canonical
uniprot_keyword
KW-0307
canonical
name
Gaucher disease
uniprot
definition
Protein which, if defective, causes Gaucher disease, the most prevalent sphingolipid storage disorder caused by a recessively inherited deficiency of the enzyme glucocerebrosidase. Most common in Ashkenazi Jews, it is associated with hepatosplenomegaly (enlargement of liver and spleen) and, in severe early onset forms of the disease, with neurological dysfunction.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords