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HYLS1

{{Short description|Protein-coding gene in the species Homo sapiens}}

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{{Infobox_gene}}

Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.{{cite web | title = Entrez Gene: hydrolethalus syndrome 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=219844}}{{cite journal |vauthors=Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L | title = Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1 | journal = Hum. Mol. Genet. | volume = 14 | issue = 11 | pages = 1475–88 |date=June 2005 | pmid = 15843405 | doi = 10.1093/hmg/ddi157 | doi-access = free }}

Function

Hyls1 is incorporated into centrioles as they are formed but is not required for centriole assembly. However Hyls1 is required for the formation of cilia.{{cite journal |vauthors=Dammermann A, Pemble H, Mitchell BJ, McLeod I, Yates JR, Kintner C, Desai AB, Oegema K | title = The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation | journal = Genes Dev. | volume = 23 | issue = 17 | pages = 2046–59 |date=September 2009 | pmid = 19656802 | pmc = 2751977 | doi = 10.1101/gad.1810409 }}

Clinical significance

Mutations in this gene are associated with hydrolethalus syndrome.

References

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Further reading

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  • {{cite journal |vauthors=Stelzl U, Worm U, Lalowski M, etal |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 |hdl= 11858/00-001M-0000-0010-8592-0 |s2cid=8235923 |hdl-access= free }}
  • {{cite journal |vauthors=Rose JE, Behm FM, Drgon T, etal |title=Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. |journal=Mol. Med. |volume=16 |issue= 7–8 |pages= 247–53 |year= 2010|pmid= 20379614 |doi= 10.2119/molmed.2009.00159 |pmc=2896464}}
  • {{cite journal |vauthors=Visapää I, Salonen R, Varilo T |title=Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. |journal=Am. J. Hum. Genet. |volume=65 |issue= 4 |pages= 1086–95 |year= 1999 |pmid= 10486328 |doi= 10.1086/302603 |pmc=1288242|display-authors=etal}}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
  • {{cite journal |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1996 |pmid= 8889548 |doi= 10.1101/gr.6.9.791|doi-access=free }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal |vauthors=Paetau A, Honkala H, Salonen R, etal |title=Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. |journal=J. Neuropathol. Exp. Neurol. |volume=67 |issue= 8 |pages= 750–62 |year= 2008 |pmid= 18648327 |doi= 10.1097/NEN.0b013e318180ec2e |doi-access= |s2cid=12872658 }}

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