2cue: Difference between revisions

== Structural highlights ==

<table><tr><td colspan='2'>[[2cue]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2CUE OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2CUE FirstGlance]. <br>

== Disease ==

[[http://www.uniprot.org/uniprot/PAX6_HUMAN PAX6_HUMAN]] Defects in PAX6 are the cause of aniridia (AN) [MIM:[http://omim.org/entry/106210 106210]]. A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.<ref>PMID:10346815</ref> <ref>PMID:8364574</ref> <ref>PMID:8640214</ref> <ref>PMID:9147640</ref> <ref>PMID:9281415</ref> <ref>PMID:9792406</ref> <ref>PMID:9856761</ref> <ref>PMID:10234503</ref> <ref>PMID:9931324</ref> <ref>PMID:7958875</ref> <ref>PMID:10955655</ref> <ref>PMID:10737978</ref> <ref>PMID:11553050</ref> <ref>PMID:11309364</ref> <ref>PMID:11826019</ref> <ref>PMID:12721955</ref> <ref>PMID:12634864</ref> <ref>PMID:12552561</ref> <ref>PMID:16493447</ref> <ref>PMID:21850189</ref>  Defects in PAX6 are a cause of Peters anomaly (PAN) [MIM:[http://omim.org/entry/604229 604229]]. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea.<ref>PMID:12721955</ref> <ref>PMID:8162071</ref> <ref>PMID:10441571</ref>  Defects in PAX6 are a cause of foveal hypoplasia (FOVHYP) [MIM:[http://omim.org/entry/136520 136520]]. Foveal hypoplasia can be isolated or associated with presenile cataract. Inheritance is autosomal dominant.<ref>PMID:8640214</ref> <ref>PMID:9931324</ref>  Defects in PAX6 are a cause of keratitis hereditary (KERH) [MIM:[http://omim.org/entry/148190 148190]]. An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization.  Defects in PAX6 are a cause of coloboma of iris choroid and retina (COI) [MIM:[http://omim.org/entry/120200 120200]]; also known as uveoretinal coloboma. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Severe colobomatous malformations may cause as much as 10% of the childhood blindness. The clinical presentation of ocular coloboma is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.<ref>PMID:12721955</ref>  Defects in PAX6 are a cause of coloboma of optic nerve (COLON) [MIM:[http://omim.org/entry/120430 120430]].  Defects in PAX6 are a cause of bilateral optic nerve hypoplasia (BONH) [MIM:[http://omim.org/entry/165550 165550]]; also known as bilateral optic nerve aplasia. A congenital anomaly in which the optic disc appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary.<ref>PMID:12721955</ref>  Defects in PAX6 are a cause of aniridia cerebellar ataxia and mental deficiency (ACAMD) [MIM:[http://omim.org/entry/206700 206700]]; also known as Gillespie syndrome. A rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and mental retardation.<ref>PMID:17595013</ref>   

</StructureSection>

[[Category: Homo sapiens]]

[[Category: Homeobox domain]]

[[Category: National project on protein structural and functional analyse]]

[[Category: Paired box protein]]

[[Category: Pax6]]

[[Category: Rsgi]]

[[Category: Transcription]]

[[Category: Transcription factor]]