ALMS1; Alstrom syndrome 1; ALSS; KIAA0328; DKFZp686A118; DKFZp686D1828; ALMS1 antibody; Alstrom syndrome 1 antibody; ALSS antibody; KIAA0328 antibody; DKFZp686A118 antibody; DKFZp686D1828 antibody

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

Polyclonal

Goat

Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.

Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.

100ug specific antibody in 200ul (lot specific)

Aliquot and store at -20 degree C. Minimize freezing and thawing.

Manufactured in an ISO 9001:2008 Certified Laboratory.

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.

Peptide ELISA (EIA), Immunohistochemistry (IHC)

Peptide ELISA: Antibody detection limit dilution 1: 32000.
Immunohistochemistry: In paraffin embedded Human Testis shows staining of cytoplasm in spermatocytes. Recommended concentration, 1-3ug/ml.
Western Blot: Preliminary experiments gave bands at approx 200kDa and 75kDa in lysates of Human T cell line Jurkat after 0.3ug/ml antibody staining. Please note that currently we cannot find an explanation in the literature for the bands we observe given the calculated size of 461kDa according to NP_055935.3. Both detected bands were successfully blocked by incubation with the immunizing peptide (and BLAST results with the immunizing peptide sequence did not identify any other proteins to explain the additional bands).

(2ug/ml) staining of paraffin embedded Human Testis. Microwaved antigen retrieval with Tris/EDTA buffer pH9, HRP-staining.

425,137 Da

ALMS1, centrosome and basal body associated protein

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: centriole; centrosome; cilium; cytoplasm; cytosol; nucleus; spindle pole

Molecular Function: protein binding

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

Disease: Alstrom Syndrome

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