蛋白名称
Alstrom syndrome protein 1
免疫原
Synthesized peptide derived from ALMS1 . at AA range: 1530-1610
特异性
ALMS1 Monoclonal Antibody detects endogenous levels of ALMS1 protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
ALMS1; KIAA0328; Alstrom syndrome protein 1
背景
This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014],
功能
developmental stage:Widely expressed in fetal tissues. Detected in fetal pancreas, skeletal muscle, liver, kidney and brain (at protein level). Expressed in fetal aorta and brain.,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.,function:Possible role in intracellular trafficking.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,subcellular location:Associated with centrosomes and basal body at the base of primary cilia. During mitosis localizes to both spindle poles.,tissue specificity:Expre
