The ALMS1 gene provides instructions for making a protein whose function is unknown. Researchers believe that the protein may play a role in hearing, vision, regulation of body weight, and functions of the heart, kidney, lungs, and liver. It may also affect how the pancreas regulates insulin, a hormone that helps control blood sugar levels.
The ALMS1 protein is present in most of the body's tissues, usually at low levels. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules, which are proteins that transport materials in cells and help the cell maintain its shape. The ALMS1 protein is also found at the base of cilia, which are finger-like projections that stick out from the surface of cells. Almost all cells have cilia at some stage of their life cycle. Cilia are involved in cell movement and many different chemical signaling pathways. Based on its location within cells, researchers suggest that the ALMS1 protein might be involved in the organization of microtubules, the transport of various materials, and the normal function of cilia.
Health Conditions Related to Genetic Changes
More than 80 mutations in the ALMS1 gene have been identified in people with Alström syndrome. Most of these mutations lead to the production of an abnormally small version of the ALMS1 protein that does not function properly. Researchers propose that a lack of normally functioning ALMS1 protein in the brain could lead to overeating. A loss of this protein in the pancreas may cause insulin resistance, a condition in which the body cannot use insulin properly. The combined effects of overeating and insulin resistance impair the body's ability to handle excess sugar, leading to diabetes and obesity (two common features of Alström syndrome). It is unclear how ALMS1 mutations cause the other signs and symptoms of Alström syndrome. Researchers suspect that this condition is associated with malfunctioning cilia in many of the body's tissues and organs.More About This Health Condition
Other Names for This Gene
- Alstrom syndrome 1
- Alstrom syndrome protein 1
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- 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 Alstrom syndrome. Nat Genet. 2002 May;31(1):74-8. doi: 10.1038/ng867. Epub 2002 Apr 8. Citation on PubMed
- 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 Alstrom syndrome. Nat Genet. 2002 May;31(1):79-83. doi: 10.1038/ng874. Epub 2002 Apr 8. Citation on PubMed
- 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. 2005 May;54(5):1581-7. doi: 10.2337/diabetes.54.5.1581. Citation on PubMed
- Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN. Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis. 2007 Dec 21;2:49. doi: 10.1186/1750-1172-2-49. Citation on PubMed or Free article on PubMed Central
- Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong NA, Glynne R. A role for Alstrom syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet. 2007 Jan 5;3(1):e8. doi: 10.1371/journal.pgen.0030008. Epub 2006 Nov 30. Citation on PubMed or Free article on PubMed Central
- Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005 Mar 28;165(6):675-83. doi: 10.1001/archinte.165.6.675. Citation on PubMed
- 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 Alstrom syndrome. Hum Mutat. 2007 Nov;28(11):1114-23. doi: 10.1002/humu.20577. Citation on PubMed
- Minton JA, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S, Porter JR, Carey C, Hodge D, Paisey R, Walker M, Barrett TG. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. J Clin Endocrinol Metab. 2006 Aug;91(8):3110-6. doi: 10.1210/jc.2005-2633. Epub 2006 May 23. Citation on PubMed
- Paisey RB, Steeds R, Barrett T, Williams D, Geberhiwot T, Gunay-Aygun M. Alstrom Syndrome. 2003 Feb 7 [updated 2019 Jun 13]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from http://www.ncbi.nlm.nih.gov/books/NBK1267/ Citation on PubMed
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