Kw 0958
cv_term_accession
KW-0958
canonical
uniprot_keyword
KW-0958
canonical
name
Peroxisome biogenesis disorder
uniprot
synonym
PBD
uniprot
synonym
Peroxisome-biogenesis disorder
uniprot
definition
Protein which, if defective, causes peroxisome biogenesis disorder, a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata type 1 (RCDP1). ZWS, NALD and IRD are distinct from RCDP1 and constitute a clinical continuum of overlapping phenotypes known as Zellweger spectrum. The PBD group is genetically heterogeneous with at least 12 distinct genetic groups as concluded from complementation studies.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords