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. Author manuscript; available in PMC: 2007 Dec 10.
Published in final edited form as: Mol Cell Proteomics. 2007 May 9;6(8):1299–1317. doi: 10.1074/mcp.M700054-MCP200

Table IV.

Novel cilium disease proteins detected in the PSC complex

Protein/gene Diseasea Protein locationb Ref.
ALMS1 SYND Centrosomes, BB 98
ARL6 (BBS3) BBS Cilia C. elegans 99
BBS1 BBS Cilia C. elegans 92
BBS2 BBS Cilia C. elegans 92
BBS4 BBS Centrosomes, BB 100
BBS5 BBS BB other cells 15
BBS7 BBS Cilia C. elegans 92
KCNV2 CD ONL (ISH) 101
MKS1 SYND BB other cells 102
PTHB1 (BBS9) BBS NR 103
NPHP1 SLSN Primary cilia 104
TRIM32 (BBS11)c BBS NR 105
WFS1 SYND ER, vestibular hair cells 106
a

Diseases: CD, cone dystrophy; SLSN, Senior-Loken Syndrome; SYND, syndromic.

b

Locations: BB, basal body; ER, endoplasmic reticulum; ONL, outer nuclear layer; ISH, in situ hybridization.

c

TRIM32 was detected by a single peptide.