Supplied in Phosphate Buffered Saline, pH 7.30, with 0.02% Sodium Azide and 50% Glycerol.
Storage:
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Target
Function:
Plays an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.
Tissue Specificity:
Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors.
Involvement in Disease:
Neurodegeneration with brain iron accumulation 5: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early *****hood. In young *****hood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability.
Sequence Similarities:
Belongs to the WD repeat SVP1 family.
Database Links:
Entrez Gene: 11152?Human
Entrez Gene: 54636?Mouse
Omim: 300526?Human
SwissProt: Q9Y484?Human
SwissProt: Q91VM3?Mouse
Unigene: 632807?Human
Unigene: 305725?Mouse
Synonyms:
JM5 Antibody
NBIA4 Antibody
WD repeat containing protein 45 Antibody
WD repeat domain 45 Antibody
WD repeat domain phosphoinositide interacting protein 4 Antibody
WD repeat domain, X linked 1 Antibody
WD45 repeat protein interacting with phosphoinositides 4 Antibody
WDR45 Antibody
WDRX1 Antibody
WDRXI4 Antibody
WIPI 4 Antibody
WIPI-4 Antibody
WIPI4 Antibody
Information:
Target information shown above is from the UniProt Consortium.