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Alms1, centrosome and basal body associated protein

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ALMS1
Identifiers
AliasesALMS1, ALSS, centrosome and basal body associated protein, ALMS1 centrosome and basal body associated protein
External IDsOMIM: 606844; MGI: 1934606; HomoloGene: 49406; GeneCards: ALMS1; OMA:ALMS1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015120
NM_001378454

NM_145223

RefSeq (protein)

NP_055935

NP_660258

Location (UCSC)Chr 2: 73.39 – 73.63 MbChr 6: 85.56 – 85.68 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ALMS1, centrosome and basal body associated protein is a protein that in humans is encoded by the ALMS1 gene.[5]

Function

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000116127Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063810Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: ALMS1, centrosome and basal body associated protein". Retrieved 2018-07-27.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.