Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.[5][6]
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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]
Mutations in this gene are associated with hydrolethalus syndrome.[6]
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.
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- Visapää I, Salonen R, Varilo T, et al. (1999). "Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25". Am. J. Hum. Genet. 65 (4): 1086–95. doi:10.1086/302603. PMC 1288242. PMID 10486328.
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- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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.