Full Product Name
ALMS1 (Alstrom syndrome 1, ALSS, KIAA0328)
Product Synonym Names
Anti -ALMS1 (Alstrom syndrome 1, ALSS, KIAA0328)
Product Gene Name
anti-ALMS1 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Chromosome Location
Chromosome: 2; NC_000002.11 (73612886..73837046). Location: 2p13
3D Structure
ModBase 3D Structure for Q8TCU4
Species Reactivity
Canine, Human, Mouse, Rat
Specificity
Recognizes human ALMS1 at ~200kD and 75kD 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 461kD according to NP_055935.3. Species Crossreactivity: Canine, mouse and rat.
Purity/Purification
Affinity Purified
Purified by immunoaffinity chromatography.
Form/Format
Supplied as a liquid in Tris-saline, pH 7.2, 0.5% BSA, 0.02% sodium azide.
Immunogen
Synthetic peptide of human ALMS1.
Preparation and Storage
May be stored at 4 degree C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and store at -20 degree C. Aliquots are stable for at least 12 months at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.
Other Notes
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.
Product Categories/Family for anti-ALMS1 antibody
Antibodies; Abs to Disease Markers
Applications Tested/Suitable for anti-ALMS1 antibody
ELISA (EL/EIA), Western Blot (WB), Immunohistochemistry (IHC)
Application Notes for anti-ALMS1 antibody
Suitable for use in ELISA, Western Blot and Immunohistochemistry.
Dilution: ELISA: 1:32000
Western Blot: 0.3ug/ml. Preliminary experiments gave bands at approx 200kD and 75kD in lysates of Human T cell line Jurkat after antibody staining. 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).
NCBI/Uniprot data below describe general gene information for ALMS1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_055935.4
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NCBI GenBank Nucleotide #
NM_015120.4
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UniProt Primary Accession #
Q8TCU4
[Other Products]
UniProt Secondary Accession #
Q53S05; Q580Q8; Q86VP9; Q9Y4G4[Other Products]
UniProt Related Accession #
Q8TCU4[Other Products]
Molecular Weight
460,965 Da[Similar Products]
NCBI Official Full Name
Alstrom syndrome protein 1
NCBI Official Synonym Full Names
Alstrom syndrome 1
NCBI Official Symbol
ALMS1??[Similar Products]
NCBI Official Synonym Symbols
ALSS; KIAA0328; DKFZp686A118; DKFZp686D1828
??[Similar Products]
NCBI Protein Information
Alstrom syndrome protein 1; OTTHUMP00000202344; OTTHUMP00000202401
UniProt Protein Name
Alstrom syndrome protein 1
Protein Family
Alstrom syndrome protein
UniProt Gene Name
ALMS1??[Similar Products]
UniProt Synonym Gene Names
KIAA0328??[Similar Products]
UniProt Entry Name
ALMS1_HUMAN
NCBI Summary for ALMS1
This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined.
UniProt Comments for ALMS1
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
Research Articles on ALMS1
1. data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1
Precautions
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