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. Author manuscript; available in PMC: 2010 Sep 1.
Published in final edited form as: Semin Pediatr Neurol. 2009 Sep;16(3):143–154. doi: 10.1016/j.spen.2009.06.002

Table 4.

JS gene function

Gene Size (aa) PC/BB function Domains Animal mutant
NPHP1 732 BB localization; Interaction w/NPHP2-4, AHI1 SH3 M114
RPGRIP1L 1315 PC defects; BB and PC localization; Interaction w/NPHP4 C2, CC, RID M99
CEP290 2481 BB localization CC, SMC, more no
TMEM67/MKS3 995 PC defects; BB and PC localization; Interaction w/MKS1 7TM, cysteine rich M108 R70
AHI1 1196 BB localization; Interaction w/NPHP1 CC, WD40, SH3 no
ARL13B 428 PC defects; PC localization CC, GTP, proline rich M96 Z9
CC2D2A 1620 BB localization; Interaction w/CEP290, IFT88 CC Z14

aa=amino acid; BB=basal body; C2=Protein kinase C Ca2+ binding domain; CC=coiled-coil; GTP=GTP-binding domain; M = Mouse; PC=primary cilium; R = Rat; RID= RPGR interacting domain; SH3=src homology domain; SMC=Structural Maintenance of Chromosomes chromosome segregation ATPase; TM=Transmembrane domain; Z=Zebrafish;