Protein-coding gene in the species Homo sapiens
Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene .[ 5] [ 6]
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 .[ 7]
Clinical significance [ edit ]
Mutations in this gene are associated with hydrolethalus syndrome .[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000198331 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050555 – 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: hydrolethalus syndrome 1" .
^ a b Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L (June 2005). "Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1" . Hum. Mol. Genet . 14 (11): 1475–88. doi :10.1093/hmg/ddi157 . PMID 15843405 .
^ Dammermann A, Pemble H, Mitchell BJ, McLeod I, Yates JR, Kintner C, Desai AB, Oegema K (September 2009). "The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation" . Genes Dev . 23 (17): 2046–59. doi :10.1101/gad.1810409 . PMC 2751977 . PMID 19656802 .
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Paetau A, Honkala H, Salonen R, et al. (2008). "Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis". J. Neuropathol. Exp. Neurol . 67 (8): 750–62. doi :10.1097/NEN.0b013e318180ec2e . PMID 18648327 . S2CID 12872658 .