2024年12月25日 · OTX2 (Orthodenticle Homeobox 2) is a Protein Coding gene. Diseases associated with OTX2 include Microphthalmia, Syndromic 5 and Pituitary Hormone Deficiency, Combined, 6. Among its related pathways are Gastrulation and Nervous system development.

The OTX2 gene plays a critical role in the development of the eyes and related structures, such as the nerves that carry visual information from the eyes to the brain (optic nerves). It is also involved in brain development, including the formation of the …

2014年6月26日 · Otx2 drives enhancer activation through affecting chromatin marks and the activity of associated genes. Mechanistically, Oct4 is required for Otx2 expression, and reciprocally, Otx2 is required for efficient Oct4 recruitment to many enhancer regions.

The Otx2 gene encodes a transcription factor essential for the normal development of brain, cerebellum, pineal gland, and eye. In the retina, Otx2 has essential functions from early embryogenesis to adulthood.

OTX2 (orthodenticle homeobox 2) is a transcription factor responsible for mediating embryogenesis in the CNS, regulating formation of the brain parenchyma, pineal gland, cerebellum, eye, and the external granule cell layer in cerebellar development, a site extremely relevant in medulloblastoma development [7,8].

2013年6月1日 · The Otx2 homeobox gene is one of the most important genes for forebrain induction and head formation in vertebrates. In mouse embryo, Otx2 is already transcribed from the embryonic morula stage, and in the murine blastula, …

OTX2 (MIM 600037), a bicoid-type homeodomain gene, is a vertebrate ortholog of the Drosophila gene orthodenticle (Otd), and is located in chromosome 14q and has five exons of which three are coding. There are two known isoforms: a and b; isoform b is the major product of the gene and has eight fewer amino acids than isoform a.

OTX2 mutation is a cause of combined pituitary hormone deficiency (CPHD). OTR1, OTX2 and CRX act as positive modulators of the BEST1 promoter in the retinal pigment epithelium. A novel mutation in OTX2 binds normally to target genes and acts as a dominant negative inhibitor of HESX1 gene expression in combined pituittary hormone deficiency.

2025年2月8日 · Otx2 acts downstream of N-myc and is essential for patterning and spatial restriction of the sensory domain of the mammalian cochlea. Otx2 expression early in head development is important for establishing normal craniofacial features including development of the brain, eyes and pituitary gland.

2021年5月25日 · OTX2 mutations are rarely associated with hypopituitarism in isolation without eye abnormalities, and may be variably penetrant, even within the same pedigree. Our data suggest that the endocrine phenotypes in patients with OTX2 mutations are of …