catalog number :
MBS922804
products type :
ELISA Kit
products full name :
Human Alstrom syndrome protein 1, ALMS1 ELISA Kit
products short name :
Alstrom syndrome 1
products name syn :
Human Alstrom syndrome protein 1 (ALMS1) ELISA kit; ALSS; DKFZp686A118; DKFZp686D1828; KIAA0328; ; Alstrom syndrome 1
other names :
Alstrom syndrome protein 1; Alstrom syndrome protein 1; Alstrom syndrome protein 1; Alstrom syndrome 1
products gene name :
ALMS1
other gene names :
ALMS1; ALMS1; ALSS; KIAA0328
uniprot entry name :
ALMS1_HUMAN
specificity :
This assay has high sensitivity and excellent specificity for detection of human ALMS1. No significant cross-reactivity or interference between human ALMS1 and analogues was observed.
storage stability :
Unopened test kits should be stored at 2 to 8 degree C upon receipt. Please refer to pdf manual for further storage instructions.
other info1 :
Samples: Serum, plasma, tissue homogenates and Cell lysates. Assay Type: Sandwich. Detection Range: 39.07 pg/ml -2500 pg/ml. Sensitivity: The minimum detectable dose of human ALMS1 is typically less than 9.77 pg/ml.The sensitivity of this assay, or Lower Limit of Detection (LLD) was defined as the lowest protein concentration that could be differentiated from zero. It was determined the mean O.D value of 20 replicates of the zero standard added by their three standard deviations.
other info2 :
Intra-assay Precision: Intra-assay Precision (Precision within an assay): CV%<8%. Three samples of known concentration were tested twenty times on one plate to assess. Inter-assay Precision: Inter-assay Precision (Precision between assays): CV%<10%. Three samples of known concentration were tested in twenty assays to assess.
products description :
Princple of the assay: This assay employs the quantitative sandwich enzyme immunoassay technique. Antibody specific for ALMS1 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any ALMS1 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for ALMS1 is added to the wells. After washing, avidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of ALMS1 bound in the initial step. The color development is stopped and the intensity of the color is measured.
ncbi acc num :
NP_055935.4
ncbi gb acc num :
NM_015120.4
ncbi mol weight :
460,965 Da
ncbi pathways :
Cell Cycle Pathway (530733); Cell Cycle, Mitotic Pathway (105765); Centrosome Maturation Pathway (105807); G2/M Transition Pathway (105801); Loss Of Nlp From Mitotic Centrosomes Pathway (105811); Loss Of Proteins Required For Interphase Microtubule Organization From The Centrosome Pathway (105810); Mitotic G2-G2/M Phases Pathway (160942); Recruitment Of Mitotic Centrosome Proteins And Complexes Pathway (105808)
ncbi summary :
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]
uniprot summary :
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
size4 :
10x96-Strip-Wells