The C terminus of ALMS 1 shares an 8 amino acid stretch with two other human proteins: hypothetical protein (XP_169104) and ERAL1 (NP_005693). However, this stretch is located internally in these two proteins and so will most likely not cross-react with this antibody. The N terminus was not chosen as the peptide is expected to cyclise during synthesis. ALMS1 protein has got a molecular weight of approximately 460kD. ab4306 results in a WB band of the right size, confirming that this antibody recognises the right protein.
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.