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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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
功能Possible role in intracellular trafficking.
组织特异性Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level).
疾病相关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.
发展阶段Widely expressed in fetal tissues. Detected in fetal pancreas, skeletal muscle, liver, kidney and brain (at protein level). Expressed in fetal aorta and brain.
翻译后修饰Phosphorylated upon DNA damage, probably by ATM or ATR.
细胞定位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.