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Table 1 List of proteins localized to the transition zone involved in ciliopathies

From: The transition zone: an essential functional compartment of cilia

Gene

Localization

Publication

Ciliopathy

MKS1

TZ

Garcia-Gonzalo et al, 2011; Williams et al, 2011

MKS

 

BB

Sang et al, 2011

MKS

TMEM216

AX

Garcia-Gonzalo et al, 2011

MKS, JBTS

 

TZ

Garcia-Gonzalo et al, 2011; Huang et al, 2011

MKS, JBTS

 

BB

Garcia-Gonzalo et al, 2011

MKS, JBTS

TMEM67

AX

Garcia-Gonzalo et al, 2011

MKS, JBTS, NPHP

 

TZ

Garcia-Gonzalo et al, 2011; Williams et al, 2011

MKS, JBTS, NPHP

CEP290

TZ

Garcia-Gonzalo et al, 2011

MKS, JBTS, NPHP, BBS, LCA, SLS

 

BB

Sang et al, 2011

MKS, JBTS, NPHP, BBS, LCA, SLS

 

CS

Garcia-Gonzalo et al, 2011

MKS, JBTS, NPHP, BBS, LCA, SLS

RPGRIP1L

TZ

Sang et al, 2011; Williams et al, 2011; Huang et al, 2011

MKS, JBTS, NPHP, LCA

 

BB

Garcia-Gonzalo et al, 2011

MKS, JBTS, NPHP, LCA

CC2D2A

TZ

Williams et al, 2011

MKS, JBTS

 

BB

Sang et al, 2011

MKS, JBTS

TCTN2

AX

Garcia-Gonzalo et al, 2011

MKS

 

TZ

Garcia-Gonzalo et al, 2011

MKS

 

BB

Sang et al, 2011

MKS

NPHP1

TZ

Sang et al, 2011; Williams et al, 2011

JBTS, NPHP, SLS

NPHP4

TZ

Sang et al, 2011; Garcia-Gonzalo et al, 2011; Williams et al, 2011; Huang et al, 2011

NPHP, SLS

B9D1

TZ

Garcia-Gonzalo et al, 2011; Williams et al, 2011; Huang et al, 2011

MKS

 

BB

Garcia-Gonzalo et al, 2011

MKS

  1. The proteins are described to localize to the transition zone and other ciliary compartments in recent publications. Abbreviations: AX, Axoneme; BB, Basal body; BBS, Bardet-Biedl syndrome; CS, Centriolar satellites; JBTS, Joubert syndrome; LCA, Leber congenital amaurosis; MKS, Meckel-Gruber syndrome; NPHP, nephronophthisis; SLS, Senior-Løken syndrome; TZ, transition zone.