KIAA0328; Alstrom syndrome protein 1

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

Recognizes endogenous levels of ALMS1 protein.

The antibody was purified by immunogen affinity chromatography.

Liquid in 0.42% Potassium phosphate, 0.87% Sodium chloride, pH 7.3, 30% glycerol, and 0.01% sodium azide.

Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C for one year. Avoid freeze/thaw cycles.

Small volumes of anti-ALMS1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Rabbit polyclonal antibody to ALMS1

Western Blot (WB), Immunohistochemistry (IHC)

WB (1/500 - 1/1000), IH (1/100 - 1/200)

Western blot analysis of ALMS1 expression in K562 (A) whole cell lysates.

Immunohistochemical analysis of ALMS1 staining in human breast cancer formalin fixed paraffin embedded tissue section. The section was pre-treated using heat mediated antigen retrieval with sodium citrate buffer (pH 6.0). The section was then incubated with the antibody at room temperature and detected using an HRP conjugated compact polymer system. DAB was used as the chromogen. The section was then counterstained with haematoxylin and mounted with DPX.

425,137 Da

Alstrom syndrome 1

Alstrom syndrome protein 1

Alstrom syndrome protein 1

KIAA0328??[Similar Products]

ALMS1_HUMAN

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]

ALMS1: Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. Defects in ALMS1 are the cause of Alstrom syndrome (ALMS). 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. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation

Chromosomal Location of Human Ortholog: 2p13

Cellular Component: nucleoplasm; centriole; spindle pole; centrosome; cytoplasm; cytosol; nucleus; cilium

Molecular Function: protein binding

Biological Process: regulation of stress fiber formation; organelle organization and biogenesis; mitotic cell cycle; endosome transport; G2/M transition of mitotic cell cycle

Disease: Alstrom Syndrome

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