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Genetics Home Reference: your guide to understanding genetic conditions
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ALMS1

Reviewed August 2008

What is the official name of the ALMS1 gene?

The official name of this gene is “Alstrom syndrome 1.”

ALMS1 is the gene's official symbol. The ALMS1 gene is also known by other names, listed below.

What is the normal function of the ALMS1 gene?

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.

How are changes in the ALMS1 gene related to health conditions?

Alström syndrome - caused by mutations in the ALMS1 gene

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.

Where is the ALMS1 gene located?

Cytogenetic Location: 2p13

Molecular Location on chromosome 2: base pairs 73,385,757 to 73,609,918

The ALMS1 gene is located on the short (p) arm of chromosome 2 at position 13.

The ALMS1 gene is located on the short (p) arm of chromosome 2 at position 13.

More precisely, the ALMS1 gene is located from base pair 73,385,757 to base pair 73,609,918 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ALMS1?

You and your healthcare professional may find the following resources about ALMS1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ALMS1 gene or gene products?

  • ALMS1_HUMAN
  • KIAA0328

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ALMS1?

cell ; cell division ; diabetes ; gene ; hormone ; insulin ; insulin resistance ; kidney ; overeating ; pancreas ; protein ; stage ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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. 2002 May;31(1):74-8. Epub 2002 Apr 8. (http://www.ncbi.nlm.nih.gov/pubmed/11941369?dopt=Abstract)
  • Gene Review: Alstrom Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1267)
  • 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. 2002 May;31(1):79-83. Epub 2002 Apr 8. (http://www.ncbi.nlm.nih.gov/pubmed/11941370?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15855349?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18154657?dopt=Abstract)
  • Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong NA, Glynne R. A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet. 2007 Jan 5;3(1):e8. Epub 2006 Nov 30. (http://www.ncbi.nlm.nih.gov/pubmed/17206865?dopt=Abstract)
  • 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 Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005 Mar 28;165(6):675-83. (http://www.ncbi.nlm.nih.gov/pubmed/15795345?dopt=Abstract)
  • 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. 2007 Nov;28(11):1114-23. (http://www.ncbi.nlm.nih.gov/pubmed/17594715?dopt=Abstract)
  • 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. Epub 2006 May 23. (http://www.ncbi.nlm.nih.gov/pubmed/16720663?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7840)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2008
Published: October 27, 2014