The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Blocking - Blocking peptide for Anti-ALMS1 antibody (ab4306)
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Preparation and Storage
Stability and Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Alstrom syndrome 1
Alstrom syndrome protein 1
Possible role in intracellular trafficking.
Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level).
Involvement in disease
Defects in ALMS1 are the cause of Alstrom syndrome (ALMS) [MIM:203800]. Alstrom syndrome is a rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and type 2 diabetes mellitus. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.
Widely expressed in fetal tissues. Detected in fetal pancreas, skeletal muscle, liver, kidney and brain (at protein level). Expressed in fetal aorta and brain.
Phosphorylated upon DNA damage, probably by ATM or ATR.
Cytoplasm. Cytoplasm > cytoskeleton > centrosome. Cytoplasm > cytoskeleton > cilium basal body. Cytoplasm > cytoskeleton > spindle pole. Associated with centrosomes and basal body at the base of primary cilia. During mitosis localizes to both spindle poles.