Eye Anterior Segment Abnormalities

Gene: PAX6

Green List (high evidence)

Loss of function is a well established mechanism.

This protein consists of paried domain (PD), which consists of N-terminal sub-domain (PAI domain), homeodomain (HD) and C-terminal sub-domain (RED domain) (PMID: 26899008).

Exon 5a of 14 additional aa is inserted into N-terminal sub-domain abolishes the DNA-binding ability of C-terminal sub-domain and functions as a molecular switch that selects and spedifies target genes (PMID: 20132240).

PAX6 has two isoforms, a and b, they cooperatively act in the development of both the posterior and anterior segment of the eye by regulating different genes (PMID: 26899008).
isoform a: induces KRT3 expression.
isoform b: indluced KRT12 expression when combined with KLF4 and OCT4.

Created: 30 Jun 2020, 1:57 a.m. | Last Modified: 30 Jun 2020, 1:58 a.m.

Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Coloboma of optic nerve MIM# 120430; ?Coloboma, ocular MIM# 120200; ?Morning glory disc anomaly MIM# 120430; Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550

Publications

• 27081561
• 20132240
• 26899008