ALMS1

GWB-8EE001

Peptide with sequence C-RVTNQLLGRKVPWD from the C Terminus of the Notes: Peptide ELISA: antibody detection limit dilution 1:32 000. 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). Summary: This protein is a protein containing a large tandem-repeat domain that contains no cysteine residues. Mutations in this gene have been associated with Alstrom syndrome. The encoded protein may play a role in hearing sight obesity and liver function. Alternative splice variants have been described but their full length sequences have not been determined. [1] Hearn T. Spalluto C. Phillips V. J. Renforth G. L. Copin N. Hanley N. A. and Wilson D. I. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity insulin resistance and type 2 diabetes[2] \' t Hart L. M. Maassen J. A. Dekker J. M. Heine R. J. and Maassen J. A. Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus[3] Tai T. S. Lin S. Y. and Sheu W. H. et al. Metabolic effects of growth hormone therapy in an Alstrom syndrome patient[4] Hearn T. Renforth G. L. Spalluto C. Hanley N. A. Piper K. Brickwood S. White C. Connolly V. Taylor J. F. et al. Mutation of ALMS1 a large gene with a tandem repeat encoding 47 amino acids causes Alstrom syndrome[5] Collin G. B. Marshall J. D. Ikeda A. So W. V. Russell-Eggitt I. Maffei P. Beck S. Boerkoel C. F. Sicolo N. Martin M. et al. Mutations in ALMS1 cause obesity type 2 diabetes and neurosensory degeneration in Alstrom syndrome