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. 2022 Jul 26;12:12694. doi: 10.1038/s41598-022-16701-6

Table 2.

RPE directional secretion of proteins encoded by disease genes.

Disease Protein A/BL
Mendelian posterior segment disease
Oculocutaneous albinism (OCA) TYRP1 3.7**
Tay-Sachs HEXA 3.4***
Stickler syndrome COL11A1 3.3**
Stickler syndrome COL9A2 2.4**
Cone-rod dystrophy CDHR1 2.0**
Retinitis pigmentosa (RP) SNRNP200 2.0**
Late onset retinal degeneration (LORD) C1QTNF5 1.0
Doyne honeycomb macular dystrophy EFEMP1 0.9
Cone-rod dystrophy ADAM9 0.5**
Microphthalmia; retinal dystrophy, iris coloboma, and comedogenic acne syndrome RBP4 0.4***
Sorsby macular dystrophy TIMP3 0.1**
Mendelian anterior segment disease
Congenital cataract CRYAB 10.2****
Mucopolysaccharidosis type IV (with corneal clouding) GLB1 7.5***
Primary open angle glaucoma (POAG) OPTN 5.3**
Congenital Cataract VIM 4.4***
Corneal dystrophies TGFBI 3.2*
Amyloidosis, meretoja syndrome; lattice corneal dystrophy GSN 2.0*
Gaucher disease (with corneal opacities) GBA 2.0*
Other Mendelian ophthalmic disease
Microphthalmia ALDH1A3 5.4***
Progressive external ophthalmoplegia RRM2B 4.8***
Age-related macular degeneration risk loci C3 1.5*
FBLN5 1.3
CFH 1.3
HTRA1 1.2
CFI 0.6**
TIMP3 0.1**

A/BL = apical to basolateral ratio; proteins are listed from highest to lowest A/BL within each category. Bold highlights proteins with more basolateral than apical secretion. P-values were calculated with a two-tailed student’s T-test with a Benjamin-Hochberg adjustment. P-value < 0.05 (*), < 0.01 (**), < 0.001 (***), < 0.0001 (****), or > 0.05 (non-significant, no asterisk).