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. 2024 Mar 4;12:1332944. doi: 10.3389/fcell.2024.1332944

TABLE 2.

Müller glia (MG) genes associated with inherited retinal degeneration a .

OMIM# Gene Protein Cell type Function Phenotype b
600308 AQP4 Aquaporin 4 MG (Li et al., 2002) Modulating water homeostasis in the retina Inherited retinal dystrophy (Lassiale et al., 2016)
613858 PRSS56 Serine protease 56 MG (Paylakhi et al., 2018) Modulating ocular axial growth Microphthalmia, isolated 6
600342 RGR Retinal G protein-coupled receptor Retinal pigment epithelium (RPE); MG (Jiang et al., 1993) Converting all-trans retinal to 11-cis retinal Retinitis pigmentosa 44
180090 RLBP1 Retinaldehyde binding protein 1 RPE and MG (Maw et al., 1997) Visual cycle Bothnia retinal dystrophy; Fundus albipunctatus; Newfoundland rod-cone dystrophy; Retinitis punctata albescenes
604210 CRB1 Crumbs cell polarity complex component 1 Photoreceptor; MG (Pellissier et al., 2014) Cellular polarity Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented paravenous chorioretinal atrophy
a

Unless otherwise specified, this table summarizes information of MG-associated genes in OMIM, Online Mendelian Inheritance in Man (https://www.omim.org/).

b

We note that multiple genes in inherited retinal degeneration are associated with syndromic disorders with multi-organ pathology. Only phenotypes associated with the retina are listed in the table.