. Author manuscript; available in PMC: 2019 Jul 29.

Published in final edited form as: Prog Mol Biol Transl Sci. 2015 Jul 15;134:315–342. doi: 10.1016/bs.pmbts.2015.04.008

Table 1.

Biological Systems and Processes Involved in Inherited Glaucoma

Biological Process or System	Gene	Protein	Key References
Endoplasmic reticulum stress, unfolded protein response	MYOC	Myocilin	4,5
Extracellular matrix, cell junctions, and cell adhesion	LTBP2	Latent TGF-binding protein 2	6–9
	LOXL1	Lysyl oxidase like 1	10
	FNDC3B	Fibronectin type III domain containing 3B	11
	AFAP1	Actin filament-associated protein 1	12
	PLEKHA7	Pleckstrin homology domain-containing protein 7	13
	COL11A1	Collagen type XI, alpha1	14,15
	COL15A1	Collagen type XV, alpha1	16–18
	COL18A1	Collagen XVIII, alpha1	16–18
TGF beta signaling	CDKN2BAS	Cyclin-dependent kinase inhibitor 2B antisense	19–21
TGF beta signaling	TGFBR3	TGFbeta receptor 3
TNF-alpha signaling	OPTN	Optineurin	22,23
TNF-alpha signaling	TBK1	Tank-binding kinase 1	24,25
Regulation of autophagy	OPTN	Optineurin	26
Regulation of autophagy	TBK1	Tank-binding kinase 1	27
Lipid metabolism	ABCA1	ATP-binding cassette, subfamily A (ABC1) member 1	28,29
eNOS signaling and Caveolae	CAV1/CAV2	Caveolins 1 and 2	30,31
Fructose and Mannose Metabolism	GMDS	GDP-mannose 4.6 dehydratase	32,33
Fructose and Mannose Metabolism	PMM2	Phosphomannomutase
Regulation of cell division	GAS7	Growth arrest-specific 7	34–38
	TMCO1	Transmembrane and coiled-coil domains-1	39
	CDKN2BAS	Cyclin-dependent kinase inhibitor 2B antisense	19–21
Regulation of ocular development	FOXC1	Forkhead box C1	40,41
	PITX2	Paired-like homeodomain 2	42,43
	PAX6	Paired box 6	44
	CYP1B1	Cytochrome P450, family 1, subfamily B, polypeptide 1	45,46
	LTBP2	Latent TGF-binding protein 2	47
	SIX6	SIX homeobox 6	48,49
Cerebrospinal fluid pressure	8q22	NA	50