[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki41\/alms1-centrosome-and-basal-body-associated-protein\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki41\/alms1-centrosome-and-basal-body-associated-protein\/","headline":"Alms1, centrosome and basal body associated protein","name":"Alms1, centrosome and basal body associated protein","description":"before-content-x4 From Wikipedia, the free encyclopedia after-content-x4 Protein-coding gene in the species Homo sapiens ALMS1, centrosome and basal body associated","datePublished":"2016-05-17","dateModified":"2016-05-17","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki41\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki41\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","url":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","height":"1","width":"1"},"url":"https:\/\/wiki.edu.vn\/en\/wiki41\/alms1-centrosome-and-basal-body-associated-protein\/","wordCount":2858,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4From Wikipedia, the free encyclopedia       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Protein-coding gene in the species Homo sapiensALMS1, centrosome and basal body associated protein is a protein that in humans is encoded by the ALMS1 gene.[5]       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Function[edit]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 maintenance 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].References[edit]Further reading[edit]Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK (May 2002). “Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstr\u00f6m syndrome”. Nat. Genet. 31 (1): 74\u20138. doi:10.1038\/ng867. PMID\u00a011941369. S2CID\u00a025710209.Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI (May 2002). “Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstr\u00f6m syndrome”. Nat. Genet. 31 (1): 79\u201383. doi:10.1038\/ng874. PMID\u00a011941370. S2CID\u00a01840855.‘t Hart LM, Maassen JA, Dekker JM, Heine RJ, Maassen JA (July 2003). “Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus”. Diabetologia. 46 (7): 1023\u20134. doi:10.1007\/s00125-003-1138-0. PMID\u00a012827243.Tai TS, Lin SY, Sheu WH (2003). “Metabolic effects of growth hormone therapy in an Alstr\u00f6m syndrome patient”. Horm. Res. 60 (6): 297\u2013301. doi:10.1159\/000074248. PMID\u00a014646408. S2CID\u00a023942224.Hearn T, Spalluto C, Phillips VJ, Renforth GL, Copin N, Hanley NA, Wilson DI (May 2005). “Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes”. Diabetes. 54 (5): 1581\u20137. doi:10.2337\/diabetes.54.5.1581. PMID\u00a015855349.Patel S, Minton JA, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG (June 2006). “Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population”. Diabetologia. 49 (6): 1209\u201313. doi:10.1007\/s00125-006-0227-2. PMID\u00a016601972.Patel S, Minton JA, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG (June 2006). “Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population”. Diabetologia. 49 (6): 1209\u201313. doi:10.1007\/s00125-006-0227-2. PMID\u00a016601972.Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK (November 2007). “Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstr\u00f6m syndrome”. Hum. Mutat. 28 (11): 1114\u201323. doi:10.1002\/humu.20577. PMID\u00a017594715. S2CID\u00a037118773.Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK (November 2007). “Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstr\u00f6m syndrome”. Hum. Mutat. 28 (11): 1114\u201323. doi:10.1002\/humu.20577. PMID\u00a017594715. S2CID\u00a037118773.This article incorporates text from the United States National Library of Medicine, which is in the public domain.     (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4"},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki41\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki41\/alms1-centrosome-and-basal-body-associated-protein\/#breadcrumbitem","name":"Alms1, centrosome and basal body associated protein"}}]}]