ITT0199
ITT0199
- Catalog: ITT0199
- Gene/Protein: ALMS1
- Product Description: Immunotag™ ALMS1 Polyclonal Antibody
385.0000
Price in reward points: 385
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Antibody Specification | |
Datasheet | |
Target Protein | ALMS1 |
Clonality | Polyclonal |
Storage/Stability | -20°C/1 year |
Application | WB,IHC-p,ELISA |
Recommended Dilution | Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/100 - 1/300. ELISA: 1/40000. Not yet tested in other applications. |
Concentration | 1 mg/ml |
Reactive Species | Human |
Host Species | Rabbit |
Immunogen | Synthesized peptide derived from ALMS1 . at AA range: 1530-1610 |
Specificity | ALMS1 Polyclonal Antibody detects endogenous levels of ALMS1 protein. |
Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
Form | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
Gene Name | ALMS1 |
Accession No. | Q8TCU4 Q8K4E0 |
Alternate Names | ALMS1; KIAA0328; Alstrom syndrome protein 1 |
Description | ALMS1, centrosome and basal body associated protein(ALMS1) Homo sapiens 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], |
Protein Expression | Brain,Lymphoblast,Testis, |
Subcellular Localization | spindle pole,nucleus,cytoplasm,centrosome,centriole,cytosol,motile cilium,ciliary basal body, |
Protein Function | 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:Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level)., |
Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |