| ALMS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ALMS1, ALSS, centrosome and basal body associated protein, ALMS1 centrosome and basal body associated protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606844 MGI: 1934606 HomoloGene: 49406 GeneCards: ALMS1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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ALMS1, centrosome and basal body associated protein is a protein that in humans is encoded by the ALMS1 gene.[5]
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].
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000116127 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000063810 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: ALMS1, centrosome and basal body associated protein". Retrieved 2018-07-27.
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 (May 2002). "Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome". Nat. Genet. 31 (1): 74–8. doi:10.1038/ng867. PMID 11941369. S2CID 25710209.
- 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 Alström syndrome". Nat. Genet. 31 (1): 79–83. doi:10.1038/ng874. PMID 11941370. S2CID 1840855.
- '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): 1023–4. doi:10.1007/s00125-003-1138-0. PMID 12827243.
- Tai TS, Lin SY, Sheu WH (2003). "Metabolic effects of growth hormone therapy in an Alström syndrome patient". Horm. Res. 60 (6): 297–301. doi:10.1159/000074248. PMID 14646408. S2CID 23942224.
- 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): 1581–7. doi:10.2337/diabetes.54.5.1581. PMID 15855349.
- 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): 1209–13. doi:10.1007/s00125-006-0227-2. PMID 16601972.
- 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): 1209–13. doi:10.1007/s00125-006-0227-2. PMID 16601972.
- 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 Alström syndrome". Hum. Mutat. 28 (11): 1114–23. doi:10.1002/humu.20577. PMID 17594715. S2CID 37118773.
- 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 Alström syndrome". Hum. Mutat. 28 (11): 1114–23. doi:10.1002/humu.20577. PMID 17594715. S2CID 37118773.
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