VSX1

VSX1

A gene on chromosome 20p11.21 that encodes a homeobox protein which binds to the core of the locus control region of the red/green visual pigment gene cluster. It may regulate the activity of the locus control region (LCR) and the cone opsin genes at earlier stages of development.

Molecular pathology
VSX1 mutations can cause posterior polymorphous corneal dystrophy and keratoconus.
References in periodicals archive ?
Other genes such as CAST, DOCK9, IL1RN, SLC4A11, HGF, TGFBI, ZNF469, ZEB1, and VSX1 have been studied and involved in the possible genetic element of keratoconus [5, 6].
Szilard et al., "Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1," Proceedings of the National Academy of Sciences of the United States of America, vol.
VSX1 geninin heterozigot mutasyonlari keratokonusun bir nedeni olarak gorulebilmektedir.
Keratokonuslu bir ailenin uc neslinin takibinde VSX1 geninin D144E mutasyonu gorulmustur.
Keratokonus bulunan 18 ailede yapilan arastirmada VSX1 ve SOD1'in olasi hastalik yapan genler olarak tespit edilmis ve 13q32'ya yakin keratokonus icin sorumlu olabilecek bir gen tespit edilmistir.
Daha onceki yayinlarda keratokonus ile ilgili oldugu dusunulen VSX1 gen mutasyonlarinin keratokonus ile baglantili olmadigi gosterilmistir.
The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?
Those that did not sustain feeding damage by CSB included ARC91016-41-E5, ARC91016-41L-2, ARC91017-44E-5, ARC91023-63L-5, ARC91022-59L-4, ARC91004, Casino, GA96202, Jetton, KS7419, KS7436, KS7638, KS7730, KSM3-1-124, KS-SU-C05-S, KS-SU-W05-S, VDH 6036-195, VSX1 (= Virginia) and Winfield.
(11) Una forma de la enfer-medad asociada con un funcionamiento anormal de la retina ha sido atribuido a una mutacion en el gen VSX1 (factor de transcripcion retiniano).
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.