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Table 6 Genes and proteins leading to retinal dystrophies involved in structure of photoreceptors and ciliary function

From: Retinitis pigmentosa and allied conditions today: a paradigm of translational research

Gene Location Protein Function % Type of RP
CEP290 12q21.32 centrosomal protein 290 kDa Structural: connecting cilium 21 arRP, arLCA, JS, BBS
FSC2 17q25.3 Fascin 2 Structural   adRP
RDS 6p21.2 Retinal degeneration slow-peripherin Structural 9.5 adRP, adMD, RP digenic with ROM1
ROM1 11q12.3 retinal outer segment membrane protein 1 Structural 2 RP digenic with RDS
RP1 8q12.1 RP1 protein Structural: photoreceptor trafficking 3.5 adRP, arRP
TULP1 6p21.31 tubby-like protein 1 Retinal development 2 arRP, arLCA
USH2A 1q41 usherin Structural: photoreceptor trafficking 10 arRP, USH
CRB1 1q31.3 crumbs homolog 1 Structural: extracellular matrix 6.5 arRP, arLCA
RP2 Xp11.23 XRP2 protein similar to human cofactor C Structural: photoreceptor trafficking 15 xlRP
RPGR Xp14 retinitis pigmentosa GTPase regulator Structural: photoreceptor trafficking 75 xlRP, xlCORD, xlCSNB
RPGRIP1 14q11.2 RP GTPase regulator-interacting protein 1 Structural: photoreceptor trafficking   arLCA
LCA5 6q14.1 Lebercilin Structural: photoreceptor trafficking   arLCA
OFD1 Xp22.2 oral-facial-digital syndrome 1 protein Ciliary function   JS
MYO7A 11q13.5 Myosin VIIA Photoreceptor trafficking   USH
USH1C 11p14-p15 harmonin Structural: scaffolding   USH
DFNB31 9q32-q34 whirlin Structural: scaffolding   USH
CDH23 10q21-q22 cadherin-23 Structural: cell-cell adhesion   USH
PCDH15 10q21-q22 protocadherin-15 Structural: cell-cell adhesion   USH
USH1G 17q24-q25 SANS Structural: scaffolding   USH
GPR98 5q14-q21 VLGR1 Structural: extracellular matrix   USH
BBS1 11q13 BBS protein 1 Ciliary function   BBS
BBS2 16q21.2 BBS protein 2 Ciliary function   BBS
ARL6/BBS3 3q11.2 ADP-ribosylation factor-like 6 Ciliary function   BBS
BBS4 15q24.1 BBS protein 4 Ciliary function   BBS
BBS5 2q31.1 flagellar apparatus-basal body protein DKFZp7621194 Ciliary function   BBS
MKKS/BBS6 20p12.1 McKusick-Kaufman syndrome protein Ciliary function: chaperonine   BBS, MKKS
BBS7 4q27 BBS protein 7 Ciliary function   BBS
TTC8/BBS8 14q32.11 tetratricopeptide repeat domain 8 Ciliary function   BBS
B1/BBS9 7p14.3 parathyroid hormone-responsive B1 protein Ciliary function   BBS
BBS10 12q21.2 BBS protein 10 Ciliary function: chaperonine   BBS
TRIM32 9q33.1 tripartite motif-containing protein 32 Ciliary function   BBS, LGMD2H
BBS12 4q27 BBS protein 12 Ciliary function: chaperonine   BBS
MKS1/BBS13 17q22 FABB proteome-like protein Ciliary function   BBS, MKS
AHI1 6q23.3 Abelson helper integration site 1 Ciliary function   NPH
  1. adMD: autosomal-dominant macular dystrophy; adRP: autosomal-dominant retinitis pigmentosa; arLCA: autosomal-recessive Leber's congenital amaurosis; arRP: autosomal-recessive retinitis pigmentosa; BBS: Bardet-Biedl syndrome; CORD: cone and rod dystrophy; JS: Joubert syndrome; LGMD2H; limb and griddle muscular dystrophy type 2H; MKKS: McKusick-Kaufmann syndrome; MKS; Meckel-Gruber syndrome; NPH; Nephrohophthisis; RP; retinitis pigmentosa; USH; Usher syndrome; xlCORD; X-linked cone and rod dystrophy; xlCSNB; X-linked congenital stationary night blindness; xlRP; X-linked retinitis pigmentosa