Alms1, centrosome and basal body associated protein

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

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
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2p13.1Start73,385,758 bp[1]
End73,625,166 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

7840

236266

Ensembl

ENSG00000116127

ENSMUSG00000063810

UniProt

Q8TCU4

Q8K4E0

RefSeq (mRNA)

NM_015120
NM_001378454

NM_145223

RefSeq (protein)

NP_055935

NP_660258

Location (UCSC)Chr 2: 73.39 – 73.63 MbChr 6: 85.59 – 85.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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].

gollark: I *will* continue use of `they`, for general convenience and the ability to conveniently ignore gender entirely.
gollark: Your criticism², while interesting, ultimately fails. Consider: you have *responded* to my criticism [see screenshot], despite claiming that this would not occur. This is an evident contradiction.It is also clear that, contra to your original claim #2, gollariosity has *increased* as a result of your actions.
gollark: I wholeheartedly disagree with removal of apioderivative words.1. This is dubious. Current research suggests nonlinear apioformic effects, where high use of apio-derived words leads to increased use due to memetic contamination, rather than a conserved/fixed level of apiodensity.2. I am, in any case, inevitable. Additionally, I do not consider this good.3. This appears to contradict #1 somewhat. We have also proven unable to displace the "apioform"/"bee" meme, despite previous attempts. If you want to remove it, come up with better memetics.
gollark: Wrong.
gollark: Did you know? There have been many incidents in the past where improper apiary safety protocols have lead to unbounded tetrational apiogenesis, also referred to as a VK-class "universal apiary" scenario. Often, the fallout from this needs to be cleaned up by moving all sentient entities into identical simulated universes, save for the incident occurring. This is known as "retroactive continuity", and modern apiaries' safety systems provide this functionality automatically.

References
  1. GRCh38: Ensembl release 89: ENSG00000116127 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000063810 - Ensembl, 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

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


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