WD repeat-containing protein 19 (WDR19)

WD repeat-containing protein 19 (WDR19) is a member of the WD-repeat protein family, characterized by conserved repeating units of about 40 amino acids usually bracketed by WD dipeptides, which commonly fold into a beta-propeller structure[4][6]. WDR19 is a critical component of the intraflagellar transport complex A (IFT-A), required for the retrograde movement of materials within cilia and flagella[1][2][3]. Proper function of WDR19 ensures normal cilia formation and maintenance, which is essential for various signaling pathways (notably Sonic Hedgehog signaling), organ development (including kidney, retina, bone), and tissue patterning during embryogenesis[1][2][3]. Mutations in WDR19 disrupt cilia structure and function, causing a spectrum of rare inherited diseases known as ciliopathies, which include cranioectodermal dysplasia, nephronophthisis, retinitis pigmentosa, and other syndromic conditions involving renal, skeletal, and visual organ systems[1][2][3]. WDR19 is not therapeutically targeted by drugs, but pathogenic mutations in this gene are relevant for diagnostic genetics of these rare disorders.

Other names

IFT144intraflagellar transport 144 homologKIAA1638PWDMPFLJ23127ORF26DYF-2Oseg6NPHP13FAP66CFAP66ATD5CED4SPGF72SRTD5WD repeat membrane protein PWDMP