Hydrolethalus syndrome protein 1 (HYLS1)

Hydrolethalus syndrome protein 1 (HYLS1) is a highly conserved protein localized to centrioles and basal bodies, where it is essential for the formation and proper function of cilia (ciliogenesis)[1][2][3][4]. HYLS1 mediates centriole elongation and recruits key components required for building the ciliary transition fibers and transition zone, thereby regulating the selective gating of proteins into and out of the cilium[1][3][4]. Disruption or mutation of HYLS1 results in severe developmental defects, including hydrolethalus syndrome—a lethal ciliopathy presenting with profound abnormalities in fetal development, particularly brain malformations[1][2][4]. In mammals, HYLS1 has further roles in modulating ciliary signaling, notably the Hedgehog pathway, through interactions with other ciliary proteins such as PIPKIγ and FBF1[2][4]. Although it is a fundamental component required for healthy cell and organismal development, HYLS1 itself is not a direct therapeutic target, and there are no drugs known to interact with it in a clinical context[2][4].

Other names

Centriolar and ciliogenesis-associated protein HYLS1HLSFLJ32915Hydrolethalus syndrome protein 1HLS, centriolar and ciliogenesis-associated protein HYLS1Hydrolethalus syndrome 1

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