Alms1, centrosome and basal body associated protein explained

ALMS1, centrosome and basal body associated protein is a protein that in humans is encoded by the ALMS1 gene.^[1]

Function

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].

Further reading

• 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 . Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome . Nat. Genet. . 31 . 1 . 74–8 . May 2002 . 11941369 . 10.1038/ng867 . 25710209 . free .
• 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 . Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome . Nat. Genet. . 31 . 1 . 79–83 . May 2002 . 11941370 . 10.1038/ng874 . 1840855 . free .
• 't Hart LM, Maassen JA, Dekker JM, Heine RJ, Maassen JA . Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus . Diabetologia . 46 . 7 . 1023–4 . July 2003 . 12827243 . 10.1007/s00125-003-1138-0 . free .
• Tai TS, Lin SY, Sheu WH . Metabolic effects of growth hormone therapy in an Alström syndrome patient . Horm. Res. . 60 . 6 . 297–301 . 2003 . 14646408 . 10.1159/000074248 . 23942224 .
• Hearn T, Spalluto C, Phillips VJ, Renforth GL, Copin N, Hanley NA, Wilson DI . 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 . 1581–7 . May 2005 . 15855349 . 10.2337/diabetes.54.5.1581. free .
• Patel S, Minton JA, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG . Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population . Diabetologia . 49 . 6 . 1209–13 . June 2006 . 16601972 . 10.1007/s00125-006-0227-2 . free .
• Patel S, Minton JA, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG . Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population . Diabetologia . 49 . 6 . 1209–13 . June 2006 . 16601972 . 10.1007/s00125-006-0227-2 . free .
• 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 . Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome . Hum. Mutat. . 28 . 11 . 1114–23 . November 2007 . 17594715 . 10.1002/humu.20577 . 37118773 . free .
• 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 . Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome . Hum. Mutat. . 28 . 11 . 1114–23 . November 2007 . 17594715 . 10.1002/humu.20577 . 37118773 . free .

Notes and References

1. Web site: Entrez Gene: ALMS1, centrosome and basal body associated protein. 2018-07-27.